ABC transporter pvmrp1
Xenobiotic resistance (multiresistance to antimalarial drugs)
Unknown,
Unknown
Plasmodium vivax
malaria parasite P. vivax - (species)
Intraspecific
Association Mapping
Pearson RD; Amato R; Auburn S ; et al. (2016)
Genomic analysis of local variation and recent evolution in Plasmodium vivax.
GP00001486
PVX_097025
A5KCN4
Physiology
unknown
Plasmodium vivax
malaria parasite P. vivax - (species)
Plasmodium vivax
malaria parasite P. vivax - (species)
ABC transporter pvmrp1
Plasmodium vivax
malaria parasite P. vivax - (species)
Published - Accepted by Curator
Abcb4
Biliary Phospholipid Level (low)
Coding,
Unknown
N
Cavia porcellus
domestic guinea pig - (species)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000008
Abcb4
P21440
Physiology
pseudogenization N
Mammalia
mammals - (class)
Cavia porcellus
domestic guinea pig - (species)
Abcb4
Cavia porcellus
domestic guinea pig - (species)
Published - Accepted by Curator
Abcb4
Biliary Phospholipid Level (low)
Coding,
Unknown
N
Equus caballus
horse - (species)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000009
Abcb4
P21440
Physiology
pseudogenization N
Mammalia
mammals - (class)
Equus caballus
horse - (species)
Abcb4
Equus caballus
horse - (species)
Published - Accepted by Curator
ABCB7
Iron metabolism
Unknown,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species)
Intraspecific
Association Mapping
Jones FC; Chan YF; Schmutz J ; et al. (2012)
A genome-wide SNP genotyping array reveals patterns of global and repeated species-pair divergence i[...]
GP00001379
ABCB7
O75027
Physiology
unknown
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
ABCB7
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
ABCC11
Apocrine secretion (ear wax type ; axillary odor)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Yoshiura K; Kinoshita A; Ishida T ; et al. (2006)
A SNP in the ABCC11 gene is the determinant of human earwax type.
1 Additional References
GP00000010
ABCC11
Q96J66
Physiology
1 a.a. polymorphism considered best candidate - c.538G>A - G180R in the ATP-binding cassette
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ABCC11
Homo sapiens
human - (species)
Published - Accepted by Curator
Abdominal-B
Coloration (abdomen; setae)
Cis-regulatory,
Unknown
Bombus melanopygus
(species)
Intraspecific
Association Mapping
Tian L; Rahman SR; Ezray BD ; et al. (2019)
A homeotic shift late in development drives mimetic color variation in a bumble bee.
GP00002048
Abd-B
P09087
Morphology
4kb region - probably several mutations according to recombinants with intermediate phenotypes
Bombus melanopygus
(species)
Bombus melanopygus
(species)
Abdominal-B
Bombus melanopygus
(species)
Published - Accepted by Curator
ACS11
Plant architecture (petiole-to-leaf-length ratio)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Kooke R; Kruijer W; Bours R ; et al. (2016)
Genome-Wide Association Mapping and Genomic Prediction Elucidate the Genetic Architecture of Morphol[...]
GP00001235
ACS11
Q9S9U6
Morphology
several candidate amino acid changes
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
ACS11
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
ADAMTS10
Body size (height)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Lettre G (2011)
Recent progress in the study of the genetics of height.
GP00000050
ADAMTS10
Q9H324
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ADAMTS10
Homo sapiens
human - (species)
Published - Accepted by Curator
adenosine deaminase (AgADA)
Pathogen resistance (parasite)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Association Mapping
Li J; Wang X; Zhang G ; et al. (2013)
Genome-block expression-assisted association studies discover malaria resistance genes in Anopheles [...]
GP00001463
ADA
P00813
Physiology
c.C427T p.R143C
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
adenosine deaminase (AgADA)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
AGAMOUS-LIKE 50
Leaf number (at flowering time)
Unknown,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Seymour DK; Chae E; Grimm DG ; et al. (2016)
Genetic architecture of nonadditive inheritance in Arabidopsis thaliana hybrids.
GP00001450
AGAMOUS-like 50
Q9XIE7
Morphology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AGAMOUS-LIKE 50
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
aggrecan
Body size (dwarfism)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Eberth JE; Graves KT; MacLeod JN ; et al. (2018)
Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.
GP00002142
ACAN
P16112
Morphology
g.95257458_95257500del ; p.Phe2017-Asp2023del N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
aggrecan
Equus caballus
horse - (species)
Published - Accepted by Curator
aggrecan
Body size (dwarfism)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Eberth JE; Graves KT; MacLeod JN ; et al. (2018)
Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.
GP00002144
ACAN
P16112
Morphology
g.95284530C>T ; p.Val424Met
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
aggrecan
Equus caballus
horse - (species)
Published - Accepted by Curator
aggrecan
Body size (dwarfism)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Eberth JE; Graves KT; MacLeod JN ; et al. (2018)
Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.
GP00002145
ACAN
P16112
Morphology
g.95291270del ; p.Lys82fs N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
aggrecan
Equus caballus
horse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
5 Mutations:
Peromyscus maniculatus
North American deer mouse - (species)
Intraspecific
Association Mapping
Linnen CR; Poh YP; Peterson BK ; et al. (2013)
Adaptive evolution of multiple traits through multiple mutations at a single gene.
1 Additional References
GP00001974
Asip
Q03288
Morphology
5 mutations
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species)
Agouti
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
N
Peromyscus maniculatus
North American deer mouse - (species)
Intraspecific
Association Mapping
Kingsley EP; Manceau M; Wiley CD ; et al. (2009)
Melanism in peromyscus is caused by independent mutations in agouti.
GP00001976
Asip
Q03288
Morphology
recessive mutation at nucleotide position 193 (in exon 3) resulting in a change from glutamine to a stop codon at amino acid position 65 (Q65term) N
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species)
Agouti
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (skin; hair)
Cis-regulatory,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Bonilla C; Boxill LA; Donald SA ; et al. (2005)
The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with dar[...]
2 Additional References
GP00000070
Asip
Q03288
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Agouti (ASIP)
Homo sapiens
human - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
Unknown
Vermivora cyanoptera
blue-winged warbler - (species)
Interspecific
Association Mapping
Toews DP; Taylor SA; Vallender R ; et al. (2016)
Plumage Genes and Little Else Distinguish the Genomes of Hybridizing Warblers.
GP00001331
Asip
Q03288
Morphology
unknown - the divergent region falls in the 5prime region that is directly upstream of the associated coding region
Vermivora chrysoptera
Golden-winged warbler - (species)
Vermivora cyanoptera
blue-winged warbler - (species)
Agouti (ASIP)
Vermivora cyanoptera
blue-winged warbler - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
SNP
Monarcha castaneiventris
Makira monarch - (species) D
Intraspecific
Association Mapping
Uy JA; Cooper EA; Cutie S ; et al. (2016)
Mutations in different pigmentation genes are associated with parallel melanism in island flycatcher[...]
GP00001334
Asip
Q03288
Morphology
Ile55Thr
Monarcha castaneiventris
Makira monarch - (species)
Monarcha castaneiventris
Makira monarch - (species) D
Agouti (ASIP)
Monarcha castaneiventris
Makira monarch - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
Unknown
Lepus americanus
snowshoe hare - (species) D
Intraspecific
Association Mapping
Jones MR; Mills LS; Alves PC ; et al. (2018)
Adaptive introgression underlies polymorphic seasonal camouflage in snowshoe hares.
GP00002060
Asip
Q03288
Morphology
exact mutation(s) unknown
Lepus americanus
snowshoe hare - (species)
Lepus americanus
snowshoe hare - (species) D
Agouti (ASIP)
Lepus americanus
snowshoe hare - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
Unknown
Lepus timidus
Mountain hare - (species) D
Intraspecific
Association Mapping
Giska I; Farelo L; Pimenta J ; et al. (2019)
Introgression drives repeated evolution of winter coat color polymorphism in hares.
GP00002061
Asip
Q03288
Morphology
exact mutation(s) unknown
Lepus timidus
Mountain hare - (species)
Lepus timidus
Mountain hare - (species) D
Agouti (ASIP)
Lepus timidus
Mountain hare - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
Insertion
Bubalus bubalis
water buffalo - (species) D
Domesticated
Association Mapping
Liang D; Zhao P; Si J ; et al. (2021)
Genomic Analysis Revealed a Convergent Evolution of LINE-1 in Coat Color: A Case Study in Water Buff[...]
GP00002370
Asip
Q03288
Morphology
"2,809-bp-long LINE-1 insertion in the ASIP (agouti signaling protein) gene is the causative mutation for the white coat phenotype in swamp buffalo (Bubalus bubalis). This LINE-1 insertion (3′ truncated and containing only 5′ UTR) functions as a strong proximal promoter that leads to a 10-fold increase in the transcription of ASIP in white buffalo skin. The 165 bp of 5′ UTR transcribed from the LINE-1 is spliced into the first coding exon of ASIP, resulting in a chimeric transcript. The increased expression of ASIP prevents melanocyte maturation, leading to the absence of pigment in white buffalo skin and hairs. Phylogenetic analyses indicate that the white buffalo-specific ASIP allele originated from a recent genetic transposition event in swamp buffalo. Interestingly, as a similar LINE-1 insertion has been identified in the cattle ASIP gene, we discuss the convergent mechanism of coat color evolution in the Bovini tribe."
Bubalus bubalis
water buffalo - (species)
Bubalus bubalis
water buffalo - (species) D
Agouti (ASIP)
Bubalus bubalis
water buffalo - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration
Gene Amplification,
Insertion
Capra hircus
goat - (species) D
Domesticated
Association Mapping
Guo J; Sun X; Mao A ; et al. (2022)
A 13.42-kb tandem duplication at the ASIP locus is strongly associated with the depigmentation pheno[...]
GP00002380
Asip
Q03288
Morphology
"We confirmed that a genomic region harboring the ASIP gene is a major locus affecting the coat color phenotype of Swiss markings in goats. Although the molecular genetic mechanisms remain unsolved, the 13,420-bp duplication upstream of ASIP is a necessary but not sufficient condition for this phenotype in goats. Moreover, the variations in the copy number of the duplication across different goat breeds do not lead to phenotypic heterogeneity."
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
Agouti (ASIP)
Capra hircus
goat - (species)
Published - Accepted by Curator
agrecan
Body size (height)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Lettre G (2011)
Recent progress in the study of the genetics of height.
GP00000072
ACAN
P16112
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
agrecan
Homo sapiens
human - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus heteroclitus
mummichog - (species) D
Intraspecific
Association Mapping
Reid NM; Proestou DA; Clark BW ; et al. (2016)
The genomic landscape of rapid repeated evolutionary adaptation to toxic pollution in wild fish.
1 Additional References
GP00001806
Ahr
P30561
Physiology
70 kb deletion that removes parts of the two genes AHR1a and AHR2a N
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species) D
AHR2
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus heteroclitus
mummichog - (species) D
Intraspecific
Association Mapping
Reid NM; Proestou DA; Clark BW ; et al. (2016)
The genomic landscape of rapid repeated evolutionary adaptation to toxic pollution in wild fish.
1 Additional References
GP00001807
Ahr
P30561
Physiology
45 kb deletion that removes parts of the two genes AHR1a and AHR2a (from exon 5 of AHR2a to exon 4 of AHR1a) N
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species) D
AHR2
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus heteroclitus
mummichog - (species) D
Intraspecific
Association Mapping
Reid NM; Proestou DA; Clark BW ; et al. (2016)
The genomic landscape of rapid repeated evolutionary adaptation to toxic pollution in wild fish.
1 Additional References
GP00001808
Ahr
P30561
Physiology
83 kb deletion that removes parts of the two genes AHR1a and AHR2a (from exon 11 of AHR2a to exon 6 of AHR1a) N
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species) D
AHR2
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus grandis
Gulf killifish - (species) D
Intraspecific
Association Mapping
Oziolor EM; Reid NM; Yair S ; et al. (2019)
Adaptive introgression enables evolutionary rescue from extreme environmental pollution.
GP00002669
Ahr
P30561
Physiology
70 kb deletion that removes parts of the two genes AHR1a and AHR2a N
Fundulus grandis
Gulf killifish - (species)
Fundulus grandis
Gulf killifish - (species) D
AHR2
Fundulus grandis
Gulf killifish - (species)
Published - Accepted by Curator
AIP
Xenobiotic resistance (pollution)
Unknown,
Unknown
N
Fundulus heteroclitus
mummichog - (species) D
Intraspecific
Association Mapping
Reid NM; Proestou DA; Clark BW ; et al. (2016)
The genomic landscape of rapid repeated evolutionary adaptation to toxic pollution in wild fish.
GP00001812
Aip
O08915
Physiology
exact mutation(s) unknown - very good candidate gene according to association mapping and knowledge about the physiology N
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species) D
AIP
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
AIP
Xenobiotic resistance (pollution)
Unknown,
Unknown
N
Fundulus grandis
Gulf killifish - (species) D
Intraspecific
Association Mapping
Oziolor EM; Reid NM; Yair S ; et al. (2019)
Adaptive introgression enables evolutionary rescue from extreme environmental pollution.
GP00002670
Aip
O08915
Physiology
exact mutation(s) unknown - very good candidate gene according to Fst and knowledge about the physiology N
Fundulus grandis
Gulf killifish - (species)
Fundulus grandis
Gulf killifish - (species) D
AIP
Fundulus grandis
Gulf killifish - (species)
Published - Accepted by Curator
alcohol dehydrogenase (ADH1B)
Xenobiotic resistance (alcohol)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Li H; Mukherjee N; Soundararajan U ; et al. (2007)
Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and [...]
1 Additional References
GP00000077
ADH1B
P00325
Physiology
Arg47His; the derived allele results in 100-fold enzymatic rate increase and shows signs of positive selection in correlation with history of rice domestication
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
alcohol dehydrogenase (ADH1B)
Homo sapiens
human - (species)
Published - Accepted by Curator
ALX1
Beak size
Unknown,
Unknown
Geospiza
(genus) D
Interspecific
Association Mapping
Lamichhaney S; Berglund J; Almén MS ; et al. (2015)
Evolution of Darwin's finches and their beaks revealed by genome sequencing.
1 Additional References
GP00000081
Alx1
Q8C8B0
Morphology
240kb haplotype with complex variation
Geospiza
(genus)
Geospiza
(genus) D
ALX1
Geospiza
(genus)
Published - Accepted by Curator
ammonium transporter 2;1
Xenobiotic resistance (soil contamination; serpentine)
Unknown,
Unknown
Arabidopsis arenosa
(species) D
Intraspecific
Association Mapping
Arnold BJ; Lahner B; DaCosta JM ; et al. (2016)
Borrowed alleles and convergence in serpentine adaptation.
GP00001431
AMT2
Q9M6N7
Physiology
seven aa substitutions
Arabidopsis arenosa
(species)
Arabidopsis arenosa
(species) D
ammonium transporter 2;1
Arabidopsis arenosa
(species)
Published - Accepted by Curator
amylase 2B (AMY2B)
Starch processing
Gene Amplification,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Axelsson E; Ratnakumar A; Arendt ML ; et al. (2013)
The genomic signature of dog domestication reveals adaptation to a starch-rich diet.
4 Additional References
GP00000086
LOC479922
L7N0N6
Physiology
Copy Number Variation
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
amylase 2B (AMY2B)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
apicoplast ribosomal protein S10
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001531
PF3D7_1460900.1
Q8IKM3
Physiology
p.Val127Met
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
apicoplast ribosomal protein S10
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
APOE (apolipoprotein E)
Aging
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Joshi PK; Fischer K; Schraut KE ; et al. (2016)
Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan.
GP00000099
APOE
P02649
Physiology
Cys112Arg
Homo sapiens
human - (species)
Homo sapiens
human - (species)
APOE (apolipoprotein E)
Homo sapiens
human - (species)
Published - Accepted by Curator
arginyl-transfer RNA synthetase (RARS)
Heat tolerance
Coding,
SNP
Anolis cristatellus
(species) D
Intraspecific
Association Mapping
Campbell-Staton SC; Winchell KM; Rochette NC ; et al. (2020)
Parallel selection on thermal physiology facilitates repeated adaptation of city lizards to urban he[...]
GP00002620
RARS2
Q5T160
Physiology
C>G threonine>serine at amino acid residue 558 of the RARS gene = adjacent to a predicted protein-binding region22 (AA556–557). There are four non-synonymous polymorphic sites within RARS. Only one shows a significant difference in allele frequency between forest and urban habitats across all populations.
Anolis cristatellus
(species)
Anolis cristatellus
(species) D
arginyl-transfer RNA synthetase (RARS)
Anolis cristatellus
(species)
Published - Accepted by Curator
ARHGEF3
Hematopoiesis (mean blood platelet volume & blood platelet count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001605
ARHGEF3
Q9NR81
Physiology
T>C at the associated SNP that disrupts a conserved GATA motif. This variant overlaps with a common-myeloid progenitor (CMP-) and megakaryocyte-erythroid progenitor (MEP-) specific regulatory element that affects the transcription of ARHGEF3
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ARHGEF3
Homo sapiens
human - (species)
Published - Accepted by Curator
ARNT-1c
Xenobiotic resistance (pollution)
Unknown,
Unknown
N
Fundulus grandis
Gulf killifish - (species) D
Intraspecific
Association Mapping
Oziolor EM; Reid NM; Yair S ; et al. (2019)
Adaptive introgression enables evolutionary rescue from extreme environmental pollution.
GP00002672
P27540NULL
Physiology
exact mutation(s) unknown - very good candidate gene according to high differentiation region on chromosome 8 and knowledge about the physiology. ARNT1c is a nuclear dimerization partner of aryl hydrocarbon receptor (AHR) required for activation of the xenobiotic response pathway. N
Fundulus grandis
Gulf killifish - (species)
Fundulus grandis
Gulf killifish - (species) D
ARNT-1c
Fundulus grandis
Gulf killifish - (species)
Published - Accepted by Curator
ARNT-L2a
Xenobiotic resistance (pollution)
Unknown,
Unknown
N
Fundulus grandis
Gulf killifish - (species) D
Intraspecific
Association Mapping
Oziolor EM; Reid NM; Yair S ; et al. (2019)
Adaptive introgression enables evolutionary rescue from extreme environmental pollution.
GP00002671
P27540NULL
Physiology
exact mutation(s) unknown - very good candidate gene according to high differentiation region on chromosome 10 and knowledge about the physiology. ARNT-L2a is a nuclear dimerization partner of aryl hydrocarbon receptor (AHR) required for activation of the xenobiotic response pathway. N
Fundulus grandis
Gulf killifish - (species)
Fundulus grandis
Gulf killifish - (species) D
ARNT-L2a
Fundulus grandis
Gulf killifish - (species)
Published - Accepted by Curator
arrow
Coloration (wing)
Cis-regulatory,
Unknown
Danaus chrysippus
African queen - (species)
Intraspecific
Association Mapping
Martin SH; Singh KS; Gordon IJ ; et al. (2020)
Whole-chromosome hitchhiking driven by a male-killing endosymbiont.
GP00002431
cnn
P54623
Morphology
The strongest associations with forewing tip (C locus) occur at the gene arrow and a phylogenetic network for a 100-kb region around this gene similarly clusters individuals by phenotype. In Drosophila Arrow is essential for Wnt signalling in wing development
Danaus chrysippus
African queen - (species)
Danaus chrysippus
African queen - (species)
arrow
Danaus chrysippus
African queen - (species)
Published - Accepted by Curator
asparagine synthetase (AS)
Silk yield
Unknown,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xiang H; Liu X; Li M ; et al. (2018)
The evolutionary road from wild moth to domestic silkworm.
1 Additional References
GP00002404
AsnS
Q7KTW9
Physiology
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
asparagine synthetase (AS)
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
ATP2B4
Pathogen resistance (Plasmodium; malaria parasite)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Timmann C; Thye T; Vens M ; et al. (2012)
Genome-wide association study indicates two novel resistance loci for severe malaria.
GP00000127
ATP2B4
P23634
Physiology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ATP2B4
Homo sapiens
human - (species)
Published - Accepted by Curator
ATXN1
Body fat distribution (attenuation)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001552
ATXN1
P54253
Physiology
A>G in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ATXN1
Homo sapiens
human - (species)
Published - Accepted by Curator
AZI1
Root growth (root growth responses to low zinc conditions)
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Bouain N; Satbhai SB; Korte A ; et al. (2018)
Natural allelic variation of the AZI1 gene controls root growth under zinc-limiting condition.
GP00001769
AZI1
Q9SU35
Physiology
exact causing mutation(s) unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AZI1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
B4GALT7
Body size (dwarfism)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Leegwater PA; Vos-Loohuis M; Ducro BJ ; et al. (2016)
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.
GP00002151
B4GALT7
Q9UBV7
Morphology
g.3,772,591C>T ; c.50G>A ; p.R17K ; last nucleotide of exon 1 and leads to a splicing deficiency of B4GALT7 transcripts ; All 29 dwarfs of which DNA was available were homozygous for the mutation . . . the 8 obligate carriers were heterozygous
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
B4GALT7
Equus caballus
horse - (species)
Published - Accepted by Curator
bab
Insect pheromone attraction
Cis-regulatory,
Unknown
Ostrinia nubilalis
European corn borer - (species)
Intraspecific
Association Mapping
Unbehend M; Kozak GM; Koutroumpa F ; et al. (2021)
bric à brac controls sex pheromone choice by male European corn borer moths.
GP00002424
bab1
Q9W0K7
Behavior; Physiology
A genome-wide association study of pheromone preference under field conditions indicates that preference is controlled by sequence variation within the 293 kb bab intron 1.
Ostrinia nubilalis
European corn borer - (species)
Ostrinia nubilalis
European corn borer - (species)
bab
Ostrinia nubilalis
European corn borer - (species)
Published - Accepted by Curator
BAK1
Hematopoiesis (blood platelet count)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001616
BAK1
Q16611
Physiology
A>G at the associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
BAK1
Homo sapiens
human - (species)
Published - Accepted by Curator
BarH1
Coloration (wing; sex-specific; female-specific)
Cis-regulatory,
Insertion
Colias croceus
clouded yellow - (species) D
Intraspecific
Association Mapping
Woronik A; Tunström K; Perry MW ; et al. (2019)
A transposable element insertion is associated with an alternative life history strategy.
GP00002095
B-H1
Q24255
Morphology
insertion of a Jockey-like transposable element 6 kb downstream of the Colias homolog of BarH-1. BarH-1 expression suppresses orange coloration in the wings.
Colias croceus
clouded yellow - (species)
Colias croceus
clouded yellow - (species) D
BarH1
Colias croceus
clouded yellow - (species)
Published - Accepted by Curator
BBS9 (+ BMPER)
Growth rate
Coding,
Deletion
N
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Association Mapping
Derks MFL; Lopes MS; Bosse M ; et al. (2018)
Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes[...]
GP00002341
Bbs9
Q811G0
Physiology
212kb deletion resulting in truncated BBS9 protein and recessive loss of neighbor gene expression BMPER N
Sus scrofa domesticus
domestic pig - (subspecies)
Sus scrofa domesticus
domestic pig - (subspecies) D
BBS9 (+ BMPER)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Coloration (coat)
Cis-regulatory,
Unknown
Vermivora cyanoptera
blue-winged warbler - (species)
Interspecific
Association Mapping
Toews DP; Taylor SA; Vallender R ; et al. (2016)
Plumage Genes and Little Else Distinguish the Genomes of Hybridizing Warblers.
GP00001332
BCO2
Q9BYV7
Morphology
unknown - the divergent region falls in the 5prime region that is directly upstream of the associated coding region
Vermivora chrysoptera
Golden-winged warbler - (species)
Vermivora cyanoptera
blue-winged warbler - (species)
BCO2 = beta-carotene oxygenase 2
Vermivora cyanoptera
blue-winged warbler - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (bill, legs)
Coding,
SNP
N
Serinus canaria
common canary - (species) D
Domesticated
Association Mapping
Gazda MA; Toomey MB; Araújo PM ; et al. (2020)
GENETIC BASIS OF DE NOVO APPEARANCE OF CAROTENOID ORNAMENTATION IN BARE-PARTS OF CANARIES.
GP00002039
BCO2
Q9BYV7
Morphology
point mutation at nucleotide position 837,806 that is predicted to be a nonsynonymous mutation in the exon 9 of the BCO2 gene. This variant results in the substitution of a histidine for an arginine at residue 413 of the protein (R413H) . In silico analysis suggests that the R413H could cause structural distortion of the protein and lead to a possible loss of activity. In vitro assays with the urucum BCO2 variant show that the enzyme activity is lost. N
Serinus canaria
common canary - (species)
Serinus canaria
common canary - (species) D
BCO2 = beta-carotene oxygenase 2
Serinus canaria
common canary - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Coloration (ventral scales)
Cis-regulatory,
Unknown
Podarcis muralis
Common wall lizard - (species)
Intraspecific
Association Mapping
Andrade P; Pinho C; Pérez I de Lanuza G ; et al. (2019)
Regulatory changes in pterin and carotenoid genes underlie balanced color polymorphisms in the wall [...]
GP00002120
Bco2
Q99NF1
Morphology
Podarcis muralis
Common wall lizard - (species)
Podarcis muralis
Common wall lizard - (species)
BCO2 = beta-carotene oxygenase 2
Podarcis muralis
Common wall lizard - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Coloration (beak)
Cis-regulatory,
Unknown
Geospiza scandens
(species) D
Geospiza fortis
medium ground-finch - (species) D
Geospiza conirostris
(species) D
Geospiza magnirostris
(species) D
Geospiza fuliginosa
(species) D
Camarhynchus parvulus
(species) D
Camarhynchus pauper
(species) D
Camarhynchus pallidus
woodpecker finch - (species) D
Geospiza difficilis
(species) D
Intraspecific
Association Mapping
Enbody ED; Sprehn CG; Abzhanov A ; et al. (2021)
A multispecies BCO2 beak color polymorphism in the Darwin's finch radiation.
GP00002384
BCO2
Q9BYV7
Morphology
"By closely inspecting this region in a combined sample of all 456 finches of the two species we identified a single exonic SNP with a likelihood ratio test (LRT) statistic exceeding 166 (Figure 1C). It is also the only consistently elevated SNP in an analysis of each species alone (Figure S1), is the best fit variant under a recessive model (STAR Methods), and occurs on multiple haplotypes (Figure S1C). This SNP (chr24:6,166,878; p6166878 hereafter) leads to a synonymous change 32 bp into exon 4 of BCO2. "
"The functional importance of the observed synonymous change is uncertain, and the presence of an unidentified linked causal variant cannot be completely ruled out (see Conclusions). However, a functional explanation is possible because codon usage can be under strong selection30 and may have functional consequences on translation,30 RNA stability,31 and transcription.32 Notably, p6166878 changes the highest frequency valine codon (ƒGTG = 27.3%) to the lowest (ƒGTA = 7.6%) in the reference genome. This is in line with the observed phenotypic effect of the yellow mutation because a lower abundance codon is expected to be associated with lower protein expression.33 In this case, less BCO2 activity results in more carotenoid deposition in the yellow morph. In fact, we found that yellow homozygotes showed significantly lower BCO2 expression compared to pink homozygotes in the upper beak of developing embryos (Figure 1F) that were sourced from a variety of different species and islands (Table S1): small sample sizes prohibit species-specific analysis. Among the six heterozygous individuals, the pink allele was expressed more than the yellow allele in five samples tested using a droplet-digital PCR (Figure S2C). Differences in expression between the two alleles, and in the absence of alternative splice variants (STAR Methods), raise the possibility that the synonymous change alters transcription factor binding affinity in exon 4. Further research into tissue-specific expression and the specific transcription factors that regulate BCO2 is warranted."
Geospiza scandens
(species)
Geospiza fortis
medium ground-finch - (species)
Geospiza conirostris
(species)
Geospiza magnirostris
(species)
Geospiza fuliginosa
(species)
Camarhynchus parvulus
(species)
Camarhynchus pauper
(species)
Camarhynchus pallidus
woodpecker finch - (species)
Geospiza difficilis
(species)
Geospiza scandens
(species) D
Geospiza fortis
medium ground-finch - (species) D
Geospiza conirostris
(species) D
Geospiza magnirostris
(species) D
Geospiza fuliginosa
(species) D
Camarhynchus parvulus
(species) D
Camarhynchus pauper
(species) D
Camarhynchus pallidus
woodpecker finch - (species) D
Geospiza difficilis
(species) D
BCO2 = beta-carotene oxygenase 2
Geospiza scandens
(species)
Geospiza fortis
medium ground-finch - (species)
Geospiza conirostris
(species)
Geospiza magnirostris
(species)
Geospiza fuliginosa
(species)
Camarhynchus parvulus
(species)
Camarhynchus pauper
(species)
Camarhynchus pallidus
woodpecker finch - (species)
Geospiza difficilis
(species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Coloration (feather)
Unknown,
Unknown
Setophaga petechia
yellow warbler - (species) D
Interspecific
Association Mapping
Baiz MD; Wood AW; Brelsford A ; et al. (2021)
Pigmentation Genes Show Evidence of Repeated Divergence and Multiple Bouts of Introgression in Setop[...]
GP00002387
BCO2
Q9BYV7
Morphology
Setophaga pensylvanica
Chestnut-sided warbler - (species)
Setophaga petechia
yellow warbler - (species) D
BCO2 = beta-carotene oxygenase 2
Setophaga petechia
yellow warbler - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Coloration (feather)
Unknown,
Unknown
Setophaga citrina
hooded warbler - (species) D
Interspecific
Association Mapping
Baiz MD; Wood AW; Brelsford A ; et al. (2021)
Pigmentation Genes Show Evidence of Repeated Divergence and Multiple Bouts of Introgression in Setop[...]
GP00002388
BCO2
Q9BYV7
Morphology
Setophaga ruticilla
(species)
Setophaga citrina
hooded warbler - (species) D
BCO2 = beta-carotene oxygenase 2
Setophaga citrina
hooded warbler - (species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001830
TUB2
P02557
Physiology
A185P - missense_variant_c.553G>C_3539974 – A185P N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001832
TUB2
P02557
Physiology
stop_gained_HIGH_c.1267C>T_3538394 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Insertion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001833
TUB2
P02557
Physiology
Trans_3538426_3538832 – insertion of a transposable element = a cut and paste DNA transposon Tc5B - which is part of the TcMar-Tc4 transposon superfamily– 406bp of the reference sequence seem to be disrupted- Steffen Hahnel comment : Since we didn't re-amplify the insertion by PCR; we don't know its exact location; sequence and size. Its identification is only based on the illumina reads of genome sequencing of JU3125. N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001834
TUB2
P02557
Physiology
missense_variant_MODERATE_c.1210G>A_3538451 – D404N N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001835
TUB2
P02557
Physiology
Del_3539006_3539808 – 802bp deletion of coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001836
TUB2
P02557
Physiology
stop_gained_HIGH_c.1135A>T_3539335 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001837
TUB2
P02557
Physiology
stop_gained_HIGH_c.1112C>A_3539358 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001838
TUB2
P02557
Physiology
Del_3539375_3539378 – 3bp deletion in coding exon 4 predicted to cause a frameshift in the ben-1 open reading frame N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001839
TUB2
P02557
Physiology
Del_3539470_3539471 – 1bp deletion in coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001840
TUB2
P02557
Physiology
Del_3539507_3539514 – 7bp deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001841
TUB2
P02557
Physiology
Del_3539559_3539745 – 186 bp deletion in coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Insertion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001842
TUB2
P02557
Physiology
Ins_3539575_3539576 – Steffen Hahnel comment: 1 bp insertion in coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001843
TUB2
P02557
Physiology
missense_variant_MODERATE_c.771G>A_3539699 – M257I N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001844
TUB2
P02557
Physiology
Del_3539746_3539908 – 162 bp deletion in exon3-4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001845
TUB2
P02557
Physiology
stop_gained_HIGH_c.549C>A_3539978 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001846
TUB2
P02557
Physiology
missense_variant_MODERATE_c.434C>T_3540145 – S145F N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001847
TUB2
P02557
Physiology
missense_variant_MODERATE_c.392A>T_3540187 – comment from Steffen Hahnel: The amino acid change is Q131L. This strain was excluded from the original screen because it was slow growing. We re-phenotyped it later (see Sup Fig. 9) N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001848
TUB2
P02557
Physiology
Del_3540300_3540301 – 1bp deletion in coding exon 2 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Inversion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001849
TUB2
P02557
Physiology
Inv_3540316_3543965 – 3649bp inversion – the text indicates that there is “a 1kb inversion that spans exon 1 and the promoter region” but the nucleotide numbers in the supplemental table indicates that 3.6kb are disrupted. Steffen Hahnel comment: we don't know the exact size of this large structural variation. I estimated conservatively from the BAM files that a region of 3649 bp is messed up in this strain compared to wildtype including one or more inversions. The largest inversion is around 1 kb. If one wants to be sure about size and location you would need to amplify this region by PCR N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Unknown
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001850
TUB2
P02557
Physiology
Del_3540369_3540369 and missense_variant_c.206A>G_3540373 E69G - the amino acid substitution (E69G) co-occurs with a deletion in exon 2 that is predicted to cause a frameshift in the ben-1 open reading frame – not sure which mutation or both are responsible for the phenotype N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001851
TUB2
P02557
Physiology
Del_3540407_3540408 – 1bp deletion in coding exon 2 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001852
TUB2
P02557
Physiology
Del_3540970_3544000 – 3030bp deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001853
TUB2
P02557
Physiology
Del_3541317_3541856 – 539 bp deletion in first coding exon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001854
TUB2
P02557
Physiology
splice_donor_variant and intron_variant – first coding exon – c.166+1G>A_3541427 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001855
TUB2
P02557
Physiology
stop_gained_HIGH_c.153T>G_3541441 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001856
TUB2
P02557
Physiology
Del_3541499_3541502 – 3bp deletion in first coding exon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Insertion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001857
TUB2
P02557
Physiology
Ins_3541547_3541548 – 1 bp insertion in first coding exon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
BHLHE41
Hypoxia response
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Huerta-Sánchez E; Degiorgio M; Pagani L ; et al. (2013)
Genetic signatures reveal high-altitude adaptation in a set of ethiopian populations.
GP00000144
BHLHE41
Q9C0J9
Physiology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
BHLHE41
Homo sapiens
human - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001488
BMH1
P29311
Physiology
C>G p.Y216* heterozygous. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001489
BMH1
P29311
Physiology
G>T p.E214*. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001490
BMH1
P29311
Physiology
A>T p.K217* (2 times independently). Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001491
BMH1
P29311
Physiology
G>A p.D101N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001492
BMH1
P29311
Physiology
T>G p.L230* heterozygous. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001493
BMH1
P29311
Physiology
C>A p.N178K located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase PP1-2 and Heat shock protein Ssb1)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001494
BMH1
P29311
Physiology
G>T p.E214*. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001495
BMH1
P29311
Physiology
G>T p.G174V homozygous functionally disruptive located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001496
BMH1
P29311
Physiology
G>A p.G174D located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase PP1-2 and Heat shock protein Ssb1)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001497
BMH1
P29311
Physiology
A>G p.N178S homozygous functionally disruptive located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001498
BMH1
P29311
Physiology
G>A p.G55D located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase PP1-2 and Heat shock protein Ssb1)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Association Mapping
Demars J; Fabre S; Sarry J ; et al. (2013)
Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]
GP00000149
Bmp15
Q9Z0L4
Physiology
c.950C>T p.T317I
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Association Mapping
Demars J; Fabre S; Sarry J ; et al. (2013)
Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]
GP00000150
Bmp15
Q9Z0L4
Physiology
c.1009A>C p.N337H
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Cis-regulatory,
SNP
Ovis aries
sheep - (species) D
Domesticated
Association Mapping
Demars J; Fabre S; Sarry J ; et al. (2013)
Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]
GP00002329
Bmp15
Q9Z0L4
Physiology
T>A SPN upstream of the BMP15 gene associated with the prolificacy variability (P = 1.93E-11). Effect of +0.20 lamb per lambing at the heterozygous state.
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP3 or PRKG2
Cranio-facial morphology
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Schoenebeck JJ; Hutchinson SA; Byers A ; et al. (2012)
Variation of BMP3 contributes to dog breed skull diversity.
GP00000152
Bmp3
Q8BHE5
Morphology
F452L in BMP3 ; this missense mutation is in a conserved position and correlates well with small breeds. However; the functional data (zebrafish BMP3 morpholino knockdown) proposed in this article is inconsistent with the mice BMP3 null-mutation
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
BMP3 or PRKG2
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
calmodulin binding hydrolase
Xenobiotic resistance (soil contamination; serpentine)
Unknown,
Unknown
Arabidopsis arenosa
(species) D
Intraspecific
Association Mapping
Arnold BJ; Lahner B; DaCosta JM ; et al. (2016)
Borrowed alleles and convergence in serpentine adaptation.
GP00001438
Q9FHQ0
Physiology
unknown
Arabidopsis arenosa
(species)
Arabidopsis arenosa
(species) D
calmodulin binding hydrolase
Arabidopsis arenosa
(species)
Published - Accepted by Curator
Camta3
Plant size (height)
Unknown,
Unknown
Zea mays
(species)
Intraspecific
Association Mapping
Peiffer JA; Romay MC; Gore MA ; et al. (2014)
The genetic architecture of maize height.
GP00001629
CAMTA3
Q8GSA7
Morphology
C>T transition on chromosome 3
Zea mays
(species)
Zea mays
(species)
Camta3
Zea mays
(species)
Published - Accepted by Curator
Casparian strip membrane domain protein 1
Xenobiotic resistance (soil contamination; serpentine)
Unknown,
Unknown
Arabidopsis arenosa
(species) D
Intraspecific
Association Mapping
Arnold BJ; Lahner B; DaCosta JM ; et al. (2016)
Borrowed alleles and convergence in serpentine adaptation.
GP00001432
CASP1
Q9SIH4
Physiology
five aa sustitutions
Arabidopsis arenosa
(species)
Arabidopsis arenosa
(species) D
Casparian strip membrane domain protein 1
Arabidopsis arenosa
(species)
Published - Accepted by Curator
CCAAT-enhancer-binding protein alpha (CEBPA)
Hematopoiesis (blood basophil count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001603
CEBPA
P49715
Physiology
C>T at the associated SNP which resides 39kb dowstream from CEBPA near a separate enhancer that influences CEBPA expression along various myeloid lineages. T allele was associated with a 28.6% reduction in enhancer activity.
Homo sapiens
human - (species)
Homo sapiens
human - (species)
CCAAT-enhancer-binding protein alpha (CEBPA)
Homo sapiens
human - (species)
Published - Accepted by Curator
ccdc170
Coloration
Unknown,
Unknown
Anolis sagrei
Brown anole - (species)
Intraspecific
Association Mapping
Feiner N; Brun-Usan M; Andrade P ; et al. (2022)
A single locus regulates a female-limited color pattern polymorphism in a reptile.
GP00002363
Ccdc170
D3YXL0
Morphology
Anolis sagrei
Brown anole - (species)
Anolis sagrei
Brown anole - (species)
ccdc170
Anolis sagrei
Brown anole - (species)
Published - Accepted by Curator
CEP55
Recombination rate (female)
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001667
CEP55
E1B8M0
Physiology
Associated SNP located near the gene
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
CEP55
Bos taurus
cattle - (species)
Published - Accepted by Curator
CG11699
Xenobiotic resistance
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
Mateo L; Ullastres A; González J (2014)
A transposable element insertion confers xenobiotic resistance in Drosophila.
GP00001399
Dmel\CG11699
Q9VYX5
Physiology
insertion of a 186bp POGON1 element in the 3'UTR
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
CG11699
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
CG8492
Pathogen resistance (Drosophila C virus & flock house virus)
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Experimental Evolution
Association Mapping
Martins NE; Faria VG; Nolte V ; et al. (2014)
Host adaptation to viruses relies on few genes with different cross-resistance properties.
GP00001481
Dmel\CG8492
Q9VSA5
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
CG8492
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Chit beta-GlcNAcase
Silk fineness
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Tong X; Han MJ; Lu K ; et al. (2022)
High-resolution silkworm pan-genome provides genetic insights into artificial selection and ecologic[...]
GP00002401
P49010
Physiology
BmChit β-GlcNAcase gene is expressed at a significantly higher level in fine silk strains (Suxiu, Chunfeng) compared to coarse silk strains. CRISPR-cas9 mediated knockout of the BmChit β-GlcNAcase gene produced coarser silk.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Chit beta-GlcNAcase
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
chloroquine resistance transporter
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001533
CRT
Q9N623
Physiology
p.Ile356Thr
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
chloroquine resistance transporter
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
CHRNA3/5 nicotine receptor cluster
Aging
Smoking behavior
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Joshi PK; Fischer K; Schraut KE ; et al. (2016)
Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan.
GP00000185
CHRNA3
P32297
Physiology
Physiology
unknown; complex variation with SNP association signal
Homo sapiens
human - (species)
Homo sapiens
human - (species)
CHRNA3/5 nicotine receptor cluster
Homo sapiens
human - (species)
Published - Accepted by Curator
CIS1
Xenobiotic resistance (citrinin)
Cis-regulatory,
Unknown
Saccharomyces paradoxus
(species) D
Domesticated
Association Mapping
Naranjo S; Smith JD; Artieri CG ; et al. (2015)
Dissecting the Genetic Basis of a Complex cis-Regulatory Adaptation.
GP00001313
ATG31
Q12421
Physiology
mutations within 1kb in promotor region
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces paradoxus
(species) D
CIS1
Saccharomyces paradoxus
(species)
Published - Accepted by Curator
CLH1
Xenobiotic resistance (fungicide: guazatine)
Unknown,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Atanasov KE; Barboza-Barquero L; Tiburcio AF ; et al. (2016)
Genome Wide Association Mapping for the Tolerance to the Polyamine Oxidase Inhibitor Guazatine in Ar[...]
GP00001234
CLH1
O22527
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
CLH1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Clock
Circadian rhythm
Unknown,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xiang H; Liu X; Li M ; et al. (2018)
The evolutionary road from wild moth to domestic silkworm.
1 Additional References
GP00002409
Clk
O61735
Physiology
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Clock
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
cortex
Coloration (wing)
Cis-regulatory,
Deletion
Heliconius melpomene
postman butterfly - (species) D
Domesticated
Association Mapping
Hanly JJ; Livraghi L; Heryanto C ; et al. (2022)
A large deletion at the cortex locus eliminates butterfly wing patterning.
GP00001805
cort
Q960N3
Morphology
78-kb deletion in the 5′ region of the cortex gene that includes a facultative 5′UTR exon detected in larval wing disk transcriptomes. Phenotypic effect confirmed by CRISPR mutagenesis of this exon. The ivory deletion causes the loss of 1 of 2 promoters.
Heliconius melpomene
postman butterfly - (species)
Heliconius melpomene
postman butterfly - (species) D
cortex
Heliconius melpomene
postman butterfly - (species)
Published - Accepted by Curator
cortex
Coloration (wing ; leaf mimicry ; camouflage)
Cis-regulatory,
Complex Change
Kallima inachus
orange oakleaf - (species) D
Intraspecific
Association Mapping
Wang S; Teng D; Li X ; et al. (2022)
The evolution and diversification of oakleaf butterflies.
GP00002413
cort
Q960N3
Morphology
Kallima inachus
orange oakleaf - (species)
Kallima inachus
orange oakleaf - (species) D
cortex
Kallima inachus
orange oakleaf - (species)
Published - Accepted by Curator
cortex
Coloration (wing ; leaf mimicry ; camouflage)
Cis-regulatory,
Unknown
Kallima inachus
orange oakleaf - (species) D
Intraspecific
Association Mapping
Wang S; Teng D; Li X ; et al. (2022)
The evolution and diversification of oakleaf butterflies.
GP00002414
cort
Q960N3
Morphology
Kallima inachus
orange oakleaf - (species)
Kallima inachus
orange oakleaf - (species) D
cortex
Kallima inachus
orange oakleaf - (species)
Published - Accepted by Curator
cortex
Coloration (wing ; leaf mimicry ; camouflage)
Cis-regulatory,
Unknown
Kallima inachus
orange oakleaf - (species) D
Intraspecific
Association Mapping
Wang S; Teng D; Li X ; et al. (2022)
The evolution and diversification of oakleaf butterflies.
GP00002415
cort
Q960N3
Morphology
Kallima inachus
orange oakleaf - (species)
Kallima inachus
orange oakleaf - (species) D
cortex
Kallima inachus
orange oakleaf - (species)
Published - Accepted by Curator
cortex
Coloration (wing ; leaf mimicry ; camouflage)
Cis-regulatory,
Unknown
Kallima inachus
orange oakleaf - (species) D
Intraspecific
Association Mapping
Wang S; Teng D; Li X ; et al. (2022)
The evolution and diversification of oakleaf butterflies.
GP00002416
cort
Q960N3
Morphology
Large inversion and many mutations in the large inverted region.
Kallima inachus
orange oakleaf - (species)
Kallima inachus
orange oakleaf - (species) D
cortex
Kallima inachus
orange oakleaf - (species)
Published - Accepted by Curator
cortex
Coloration (wing; mimicry)
Unknown,
Unknown
Papilio clytia
common mime swallowtail - (species)
Intraspecific
Association Mapping
VanKuren NW; Massardo D; Nallu S ; et al. (2019)
Butterfly Mimicry Polymorphisms Highlight Phylogenetic Limits of Gene Reuse in the Evolution of Dive[...]
GP00002419
cort
Q960N3
Morphology
Mapping to a 500-kb region that contains the cortex gene
Papilio clytia
common mime swallowtail - (species)
Papilio clytia
common mime swallowtail - (species)
cortex
Papilio clytia
common mime swallowtail - (species)
Published - Accepted by Curator
cortex
Coloration (wing; seasonal)
Cis-regulatory,
Unknown
Junonia coenia
buckeye - (species) D
Experimental Evolution
Association Mapping
van der Burg KRL; Lewis JJ; Brack BJ ; et al. (2020)
Genomic architecture of a genetically assimilated seasonal color pattern.
GP00002420
cort
Q960N3
Morphology
No variation in coding region. Strong association with cis-regulatory SNP.
Junonia coenia
buckeye - (species)
Junonia coenia
buckeye - (species) D
cortex
Junonia coenia
buckeye - (species)
Published - Accepted by Curator
cortex
Coloration (wing)
Cis-regulatory,
Insertion
Heliconius melpomene
postman butterfly - (species) D
Intraspecific
Association Mapping
Livraghi L; Hanly JJ; Van Bellghem SM ; et al. (2021)
Cortex cis-regulatory switches establish scale colour identity and pattern diversity in Heliconius.
GP00002660
cort
Q960N3
Morphology
Insertion of two transposable elements (BovB-like and Helitron-like)
Heliconius melpomene
postman butterfly - (species)
Heliconius melpomene
postman butterfly - (species) D
cortex
Heliconius melpomene
postman butterfly - (species)
Published - Accepted by Curator
COX18
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001708
COX18
P53239
Physiology
Leu59His (T>A at position 617107 according to Table 1) - CTY to CAY position 617107
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
COX18
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
CPLX1
Recombination rate
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001659
CPLX1
Q0IIL7
Physiology
On chromosome 6. Associated SNP in the intron of the gene
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
CPLX1
Bos taurus
cattle - (species)
Published - Accepted by Curator
CREBRF
Body size (obesity)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Minster RL; Hawley NL; Su CT ; et al. (2016)
A thrifty variant in CREBRF strongly influences body mass index in Samoans.
GP00001444
CREBRF
Q8IUR6
Morphology
c.1370G>A p.Arg457Gln
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
CREBRF
Homo sapiens
human - (species)
Published - Accepted by Curator
Cryptochrome 2 (CRY2)
Circadian rhythm
Unknown,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xiang H; Liu X; Li M ; et al. (2018)
The evolutionary road from wild moth to domestic silkworm.
1 Additional References
GP00002408
cry
O77059
Physiology
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Cryptochrome 2 (CRY2)
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
CXCL16
Pathogen resistance (lymphocyte susceptibility to virus)
Coding,
SNP
Equus caballus
horse - (species)
Intraspecific
Association Mapping
Sarkar S; Bailey E; Go YY ; et al. (2016)
Allelic Variation in CXCL16 Determines CD3+ T Lymphocyte Susceptibility to Equine Arteritis Virus In[...]
GP00001591
CXCL16
F7CTX0
Physiology
4 candidate nonsynonymous substitutions within exon 1(in 2 susceptible variants): (1)c.715A>T p.Tyr40Phe (2)c.801G>C w.Asp49His (3)c.804T>A/G p.Phe50Ile (4)c.810G>A p.Glu52Lys
Equus caballus
horse - (species)
Equus caballus
horse - (species)
CXCL16
Equus caballus
horse - (species)
Published - Accepted by Curator
CYC8
Salt tolerance (experimental evolution)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
1 Additional References
GP00000195
CYC8
P14922
Physiology
1bp substitution resulting in premature stop codon N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
CYC8
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
CYP2C9
Xenobiotic resistance (anti-coagulant drug response)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Takeuchi F; McGinnis R; Bourgeois S ; et al. (2009)
A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinant[...]
1 Additional References
GP00000200
CYP2C9
P11712
Physiology
I359L
Homo sapiens
human - (species)
Homo sapiens
human - (species)
CYP2C9
Homo sapiens
human - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Association Mapping
Joußen N; Agnolet S; Lorenz S ; et al. (2012)
Resistance of Australian Helicoverpa armigera to fenvalerate is due to the chimeric P450 enzyme CYP3[...]
1 Additional References
GP00002477
CYP337B3
A0A0H3V333
Physiology
The unique P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. The exclusive presence of CYP337B3 in resistant insects of this strain confers a 42-fold resistance to fenvalerate.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP4F2
Xenobiotic resistance (anti-coagulant drug response)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Takeuchi F; McGinnis R; Bourgeois S ; et al. (2009)
A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinant[...]
1 Additional References
GP00000203
CYP4F2
P78329
Physiology
V433M
Homo sapiens
human - (species)
Homo sapiens
human - (species)
CYP4F2
Homo sapiens
human - (species)
Published - Accepted by Curator
CYP9A
Xenobiotic resistance (insecticide; deltamethrin)
Gene Amplification,
Insertion
Spodoptera frugiperda
fall armyworm - (species)
Intraspecific
Association Mapping
Gimenez S; Abdelgaffar H; Goff GL ; et al. (2020)
Adaptation by copy number variation increases insecticide resistance in the fall armyworm.
GP00002476
Physiology
In sensitive alleles the gene cluster is composed of 12 CYP9A genes and two alcohol dehydrogenase genes. All 30 resistant alleles have two copies of this unit while 28 and 6 alleles of the sensitive individuals had one and two copies; respectively.
Spodoptera frugiperda
fall armyworm - (species)
Spodoptera frugiperda
fall armyworm - (species)
CYP9A
Spodoptera frugiperda
fall armyworm - (species)
Published - Accepted by Curator
Darkener of apricot (Doa)
Lifespan
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Association Mapping
Hoedjes KM; Kostic H; Keller L ; et al. (2022)
Natural alleles at the Doa locus underpin evolutionary changes in Drosophila lifespan and fecundity.
GP00002662
Doa
P49762
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Darkener of apricot (Doa)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
DC-STAMP domain containing 2 (DCST2)
Body size
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
van der Valk RJ; Kreiner-Møller E; Kooijman MN ; et al. (2015)
A novel common variant in DCST2 is associated with length in early life and height in adulthood.
GP00001509
DCST2
Q5T1A1
Morphology
SNP rs905938 C allele associated with an increase in birth length but probably not the causative mutation
Homo sapiens
human - (species)
Homo sapiens
human - (species)
DC-STAMP domain containing 2 (DCST2)
Homo sapiens
human - (species)
Published - Accepted by Curator
DCAF17
Hair Length
Unknown,
Unknown
Sus scrofa
pig - (species) D
Domesticated
Association Mapping
Ai H; Fang X; Yang B ; et al. (2015)
Adaptation and possible ancient interspecies introgression in pigs identified by whole-genome sequen[...]
GP00001570
DCAF17
I3LQF0
Physiology
Sus scrofa
pig - (species)
Sus scrofa
pig - (species) D
DCAF17
Sus scrofa
pig - (species)
Published - Accepted by Curator
DDB1
Resistance to UV irradiation (sun exposure to skin)
Cis-regulatory,
Complex Change
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Crawford NG; Kelly DE; Hansen MEB ; et al. (2017)
Loci associated with skin pigmentation identified in African populations.
GP00001363
DDB1
Q16531
Morphology
most strongly associated SNPs are located in a region conserved across vertebrates flanked by TMEM138 and TMEM216 ~36 to 44 kb upstream of DDB1 and in high LD ; includes rs7948623 located 172 bp downstream of TMEM138 which shows enhancer activity in melanoma cells and interacts with the promoters of DDB1
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
DDB1
Homo sapiens
human - (species)
Published - Accepted by Curator
DEFICIENS
Fruit shape
Cis-regulatory,
Epigenetic Change
Elaeis guineensis
African oil palm - (species) D
Domesticated
Association Mapping
Ong-Abdullah M; Ordway JM; Jiang N ; et al. (2015)
Loss of Karma transposon methylation underlies the mantled somaclonal variant of oil palm.
GP00002100
AP3
P35632
Morphology
hypomethylation of the 3.2 kb oil palm Karma transposable element located within an intron of the DEFICIENS gene - this results in unmasking of a cryptic splice acceptor site and a premature termination signal and causes the mantled fruit phenotype- epigenetic derepression of a TE associated with a deleterious phenotype
Elaeis guineensis
African oil palm - (species)
Elaeis guineensis
African oil palm - (species) D
DEFICIENS
Elaeis guineensis
African oil palm - (species)
Published - Accepted by Curator
determinant of gall color (dgc)
Coloration (induced gall)
Cis-regulatory,
Unknown
Hormaphis cornu
(species)
Intraspecific
Association Mapping
Korgaonkar A; Han C; Lemire AL ; et al. (2021)
A novel family of secreted insect proteins linked to plant gall development.
GP00002392
Morphology
almost complete silencing of dgc expression in salivary glands of aphids carrying the red gall allele
Hormaphis cornu
(species)
Hormaphis cornu
(species)
determinant of gall color (dgc)
Hormaphis cornu
(species)
Published - Accepted by Curator
Dihydrofolate reductase (pvdhfr)
Xenobiotic resistance (pyrimethamine)
Unknown,
Unknown
Plasmodium vivax
malaria parasite P. vivax - (species) D
Intraspecific
Association Mapping
Pearson RD; Amato R; Auburn S ; et al. (2016)
Genomic analysis of local variation and recent evolution in Plasmodium vivax.
GP00001484
DHFR
P00374
Physiology
unknown
Plasmodium vivax
malaria parasite P. vivax - (species)
Plasmodium vivax
malaria parasite P. vivax - (species) D
Dihydrofolate reductase (pvdhfr)
Plasmodium vivax
malaria parasite P. vivax - (species)
Published - Accepted by Curator
Dihydropteroate synthase (pvdhps)
Xenobiotic resistance (sulfadoxine)
Unknown,
Unknown
Plasmodium vivax
malaria parasite P. vivax - (species)
Intraspecific
Association Mapping
Pearson RD; Amato R; Auburn S ; et al. (2016)
Genomic analysis of local variation and recent evolution in Plasmodium vivax.
GP00001485
DHPS
Q00LX9
Physiology
unknown
Plasmodium vivax
malaria parasite P. vivax - (species)
Plasmodium vivax
malaria parasite P. vivax - (species)
Dihydropteroate synthase (pvdhps)
Plasmodium vivax
malaria parasite P. vivax - (species)
Published - Accepted by Curator
Diptericin
Pathogen resistance (bacteria)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Association Mapping
Unckless RL; Rottschaefer SM; Lazzaro BP (2015)
The complex contributions of genetics and nutrition to immunity in Drosophila melanogaster.
1 Additional References
GP00000227
DptA
P24492
Physiology
Ser>Arg (AGC>AGA)
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Diptericin
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
DNA replication factor CDT1
Resistance to UV irradiation
Coding,
SNP
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species) D
Rhinopithecus bieti
black snub-nosed monkey - (species) D
Interspecific
Association Mapping
Yu L; Wang GD; Ruan J ; et al. (2016)
Genomic analysis of snub-nosed monkeys (Rhinopithecus) identifies genes and processes related to hig[...]
GP00001507
CDT1
Q9H211
Physiology
p.Ala537Val
Rhinopithecus avunculus
Tonkin snub-nosed monkey - (species)
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species) D
Rhinopithecus bieti
black snub-nosed monkey - (species) D
DNA replication factor CDT1
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species)
Rhinopithecus bieti
black snub-nosed monkey - (species)
Published - Accepted by Curator
DNA replication factor CDT1 [[likely pseudo-replicate of other CDT1 entry by introgression]]
Resistance to UV irradiation
Coding,
SNP
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
Interspecific
Association Mapping
Yu L; Wang GD; Ruan J ; et al. (2016)
Genomic analysis of snub-nosed monkeys (Rhinopithecus) identifies genes and processes related to hig[...]
GP00001508
CDT1
Q9H211
Physiology
p.Ala537Val
Rhinopithecus brelichi
Gray snub-nosed monkey - (species)
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
DNA replication factor CDT1 [[likely pseudo-replicate of other CDT1 entry by introgression]]
Rhinopithecus roxellana
golden snub-nosed monkey - (species)
Published - Accepted by Curator
DOG1 (DELAY OF GERMINATION 1)
Seed dormancy
Cis-regulatory,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Kerdaffrec E; Filiault DL; Korte A ; et al. (2016)
Multiple alleles at a single locus control seed dormancy in Swedish Arabidopsis.
GP00001397
DOG1
A0SVK0
Physiology
At least 3 haplotypes defined by 4 SNPs in a putative regulatory region of DOG-1.
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
DOG1 (DELAY OF GERMINATION 1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Dvl2
Organ size (tail)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Mansour TA; Lucot K; Konopelski SE ; et al. (2018)
Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 [...]
GP00002110
DVL2
O14641
Morphology
single base deletion found on CFA 5(g.32195043_32195044del) that is homozygous in the three screw tail breeds - predicted to lead to a frameshift mutation and cause a premature stop codon that truncates the translated protein by 23 amino acids (p.Pro684LeufsX26) - 26 altered amino acids are predicted to be present in the highly conserved C-terminus of the mutant protein. N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
Dvl2
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
DYM
Body size (height)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Lettre G (2011)
Recent progress in the study of the genetics of height.
GP00000242
DYM
Q7RTS9
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
DYM
Homo sapiens
human - (species)
Published - Accepted by Curator
E2F1
Silk yield
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Tong X; Han MJ; Lu K ; et al. (2022)
High-resolution silkworm pan-genome provides genetic insights into artificial selection and ecologic[...]
GP00002400
E2f1
Q27368
Physiology
There are one deletion and three insertions in the cis-regulatory region and introns of the E2F1 gene of the improved strain. Higher expression in the improves strain. CRISPR-cas9 mediated knockout of BmE2F1 reduces the number of silk gland cells by 7.68% and silk yield by 22%.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
E2F1
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
early responsive to dehydration stress protein 4
Xenobiotic resistance (soil contamination; serpentine)
Unknown,
Unknown
Arabidopsis arenosa
(species) D
Intraspecific
Association Mapping
Arnold BJ; Lahner B; DaCosta JM ; et al. (2016)
Borrowed alleles and convergence in serpentine adaptation.
GP00001434
ERD4
Q9C8G5
Physiology
unknown
Arabidopsis arenosa
(species)
Arabidopsis arenosa
(species) D
early responsive to dehydration stress protein 4
Arabidopsis arenosa
(species)
Published - Accepted by Curator
EBF1
Body fat distribution (pericardial)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001554
EBF1
Q9UH73
Physiology
A>G & T>G in 2 associated SNPs
Homo sapiens
human - (species)
Homo sapiens
human - (species)
EBF1
Homo sapiens
human - (species)
Published - Accepted by Curator
EDAR
Hair thickness
Eccrine gland density
Ear traits = lobe size / lobe attachment / helix rolling / ear protrusion
Tooth morphology (shovel-shaped incisors)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Fujimoto A; Kimura R; Ohashi J ; et al. (2008)
A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickne[...]
4 Additional References
GP00000256
EDAR
Q9UNE0
Morphology
Morphology
Morphology
Morphology
p.Val370Ala; functionally validated in mouse
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
EDAR
Homo sapiens
human - (species)
Published - Accepted by Curator
EDNRA
Coloration (coat ; white-spotting)
Gene Amplification,
Insertion
Capra hircus
goat - (species) D
Domesticated
Association Mapping
Menzi F; Keller I; Reber I ; et al. (2016)
Genomic amplification of the caprine EDNRA locus might lead to a dose dependent loss of pigmentation[...]
GP00002170
Ednra
Q61614
Morphology
1 Mb copy number variant (CNV) harboring 5 genes including EDNRA ; The duplicated EDNRA copies contain a missense variant (p.Tyr129His) predicted to increase the affinity of the encoded mutant receptor for endothelin 3. Menzi et al. proposed a hypothesis whereby ectopic overexpression of a mutant EDNRA scavenges EDN3 required for EDNRB signaling and normal melanocyte development and thus likely leads to an absence of melanocytes in the non-pigmented body areas of Boer goats (thanks to OMIA for the summary)
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
EDNRA
Capra hircus
goat - (species)
Published - Accepted by Curator
EGFR
Coloration (skin)
Unknown,
Unknown
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Quillen EE; Bauchet M; Bigham AW ; et al. (2012)
OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...]
GP00001537
EGFR
P00533
Morphology
A>T associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
EGFR
Homo sapiens
human - (species)
Published - Accepted by Curator
egl-4 (Ppa-egl-4)
Insect pheromone attraction
Unknown,
Unknown
Pristionchus pacificus
(species)
Intraspecific
Association Mapping
Hong RL; Witte H; Sommer RJ (2008)
Natural variation in Pristionchus pacificus insect pheromone attraction involves the protein kinase [...]
GP00000260
egl-4
O76360
Behavior
unknown
Pristionchus pacificus
(species)
Pristionchus pacificus
(species)
egl-4 (Ppa-egl-4)
Pristionchus pacificus
(species)
Published - Accepted by Curator
EGLN1
Hypoxia response
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Simonson TS; Yang Y; Huff CD ; et al. (2010)
Genetic evidence for high-altitude adaptation in Tibet.
3 Additional References
GP00000261
EGLN1
Q9GZT9
Physiology
possibly D4E
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
EGLN1
Homo sapiens
human - (species)
Published - Accepted by Curator
EGLN1
Hypoxia response
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Bigham A; Bauchet M; Pinto D ; et al. (2010)
Identifying signatures of natural selection in Tibetan and Andean populations using dense genome sca[...]
GP00000262
EGLN1
Q9GZT9
Physiology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
EGLN1
Homo sapiens
human - (species)
Published - Accepted by Curator
EGLN1
Hypoxia response
Coding,
SNP
Panthera uncia
snow leopard - (species) D
Interspecific
Association Mapping
Cho YS; Hu L; Hou H ; et al. (2013)
The tiger genome and comparative analysis with lion and snow leopard genomes.
GP00001358
EGLN1
Q9GZT9
Physiology
p.Met39Lys
Panthera
(genus)
Panthera uncia
snow leopard - (species) D
EGLN1
Panthera uncia
snow leopard - (species)
Published - Accepted by Curator
EGLN1
Hypoxia response
Coding,
SNP
Heterocephalus glaber
naked mole-rat - (species) D
Interspecific
Association Mapping
Kim EB; Fang X; Fushan AA ; et al. (2011)
Genome sequencing reveals insights into physiology and longevity of the naked mole rat.
GP00001759
EGLN1
Q9GZT9
Physiology
unique amino-acid changes in different positions of EGLN1 (Pro15, Arg17 and Arg36)
Rodentia
rodent - (order)
Heterocephalus glaber
naked mole-rat - (species) D
EGLN1
Heterocephalus glaber
naked mole-rat - (species)
Published - Accepted by Curator
EIF2AK3
Body size (height)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Lettre G (2011)
Recent progress in the study of the genetics of height.
GP00000264
EIF2AK3
Q9NZJ5
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
EIF2AK3
Homo sapiens
human - (species)
Published - Accepted by Curator
EIF2S2
Coloration (skin)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Liu F; Visser M; Duffy DL ; et al. (2015)
Genetics of skin color variation in Europeans: genome-wide association studies with functional follo[...]
GP00001359
EIF2S2
P20042
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
EIF2S2
Homo sapiens
human - (species)
Published - Accepted by Curator
ENA1-2-5 cluster
Salt tolerance (experimental evolution)
Gene Amplification,
Complex Change
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
1 Additional References
GP00000265
ENA1
P13587
Physiology
uncharacterized expansion
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
ENA1-2-5 cluster
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ENA1-2-5 cluster
Salt tolerance (experimental evolution)
Gene Amplification,
Complex Change
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000266
ENA1
P13587
Physiology
uncharacterized expansion
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ENA1-2-5 cluster
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Endothelin receptor B2
Coloration (feathers ; white-spotting)
Cis-regulatory,
Unknown
Anas platyrhynchos
mallard - (species) D
Domesticated
Association Mapping
Xi Y; Xu Q; Huang Q ; et al. (2021)
Genome-wide association analysis reveals that EDNRB2 causes a dose-dependent loss of pigmentation in[...]
GP00002383
EDNRB2
W8VUK4
Morphology
"The GWAS results identified a 198 kb (Chr4: 10,149,651 bp to 10,348,068 bp) genetic region that was significantly associated with the black spot phenotype. The conditional GWAS and linkage disequilibrium (LD) analysis further narrowed the ultimate candidate region to 167 kb (Chr4: 10,180,939 bp to 10,348,068 bp). A key gene regulating melanoblast migration and differentiation, EDNRB2 (Endothelin B receptor-like), was found in the candidate region and having significant mRNA expression level changes in embryonic duck skin tissue with different spot sizes. The significant SNPs (single nucleotide polymorphisms) associated with the EDNRB2 gene were annotated, and two mutations (Chr4: 10,180,939 T > C and Chr4: 10,190,671 A > T) were found to result in the loss of binding sites for two trans-factors, XBP1 and cMYB. The phenotypic effect of these two mutations suggested that they can regulate the size of black spots in a dose-dependent manner, and Chr4: 10,180,939 T > C was the major allele locus."
Anas platyrhynchos
mallard - (species)
Anas platyrhynchos
mallard - (species) D
Endothelin receptor B2
Anas platyrhynchos
mallard - (species)
Published - Accepted by Curator
ENSA
Body fat distribution (pericardial)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001558
ENSA
O43768
Physiology
A>G in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ENSA
Homo sapiens
human - (species)
Published - Accepted by Curator
EPAS1
Hypoxia response
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Simonson TS; Yang Y; Huff CD ; et al. (2010)
Genetic evidence for high-altitude adaptation in Tibet.
1 Additional References
GP00000274
EPAS1
Q99814
Physiology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
EPAS1
Homo sapiens
human - (species)
Published - Accepted by Curator
EPAS1
Hypoxia response
Coding,
SNP
Panthera uncia
snow leopard - (species) D
Interspecific
Association Mapping
Cho YS; Hu L; Hou H ; et al. (2013)
The tiger genome and comparative analysis with lion and snow leopard genomes.
GP00001357
EPAS1
Q99814
Physiology
two species-specific amino acid changes: Val663Ile and Cys794Arg - whether both or only one is affecting the phenotype is unknown
Panthera
(genus)
Panthera uncia
snow leopard - (species) D
EPAS1
Panthera uncia
snow leopard - (species)
Published - Accepted by Curator
EPAS1
Hypoxia response
Coding,
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Association Mapping
Schweizer RM; Velotta JP; Ivy CM ; et al. (2019)
Physiological and genomic evidence that selection on the transcription factor Epas1 has altered card[...]
GP00002062
EPAS1
Q99814
Physiology
non-synonymous polymorphism located at site 755 in the 14th exon that changes threonine to methionine Thr755Met
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species) D
EPAS1
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
EphB2
Feathers (crest morphology)
Coding,
SNP
Columba livia
rock pigeon - (species) D
Domesticated
Association Mapping
Shapiro MD; Kronenberg Z; Li C ; et al. (2013)
Genomic diversity and evolution of the head crest in the rock pigeon.
1 Additional References
GP00000275
EPHB2
P28693
Morphology
Arg758Cys (C>T) p.R758C
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
EphB2
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
Indel
Candida albicans
(species)
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00000285
ERG11
P10613
Physiology
Copy number Variant
Candida albicans
(species)
Candida albicans
(species)
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00000286
ERG3
P32353
Physiology
Arg63Stop A187T in line 21 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001744
ERG3
P32353
Physiology
Ser76Stop C227A in line 22 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001745
ERG3
P32353
Physiology
Ser95Stop C284A in line 23 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001746
ERG3
P32353
Physiology
Trp205Stop G615A in line 24 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001747
ERG3
P32353
Physiology
Trp205Stop G615A in line 25 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001748
ERG3
P32353
Physiology
Trp205Stop G615A in line 26 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001749
ERG3
P32353
Physiology
Trp205Stop G615A in line 27 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
Insertion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001750
ERG3
P32353
Physiology
29-bp duplication in line 28 at nucleotide position 641 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001751
ERG3
P32353
Physiology
Trp219Stop G656A in line 29 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001752
ERG3
P32353
Physiology
Gly235Ser G703A in line 30 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001753
ERG3
P32353
Physiology
Tyr299Stop C897A in line 31 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001754
ERG3
P32353
Physiology
Gly300Arg G898C in line 32 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001755
ERG3
P32353
Physiology
Asp307Ala A920C in line 33 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001756
ERG3
P32353
Physiology
1-bp deletion in line 34
A980- N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001757
ERG3
P32353
Physiology
60-bp deletion at position 253 in line 35 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG5
Xenobiotic resistance (drug)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00000287
ERG5
P54781
Physiology
60bp deletion N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG5
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG6
Xenobiotic resistance (drug)
Coding,
Unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00000288
erg6
O14321
Physiology
7 unique mutations in ERG6 within a total 19 lines ; 4 of these mutations evolved multiple times
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
ERG6
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG7
Xenobiotic resistance (drug)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00000289
ERG7
P38604
Physiology
Phe699Leu
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG7
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
F2RL2
Hematopoiesis (mean blood platelet volume)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001617
F2RL2
O00254
Physiology
A>T at the associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
F2RL2
Homo sapiens
human - (species)
Published - Accepted by Curator
FAAH
Anxiety (fear reduction)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Dincheva I; Drysdale AT; Hartley CA ; et al. (2015)
FAAH genetic variation enhances fronto-amygdala function in mouse and human.
GP00000301
Faah
P97612
Behavior
Pro129Thr (C385A; common variant rs324420)
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FAAH
Homo sapiens
human - (species)
Published - Accepted by Curator
ferredoxin
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001530
PF3D7_1318100
Q8IED5
Physiology
p.Asp193Tyr
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
ferredoxin
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
Ferroportin 2
Xenobiotic resistance (soil contamination; serpentine)
Unknown,
Unknown
Arabidopsis arenosa
(species) D
Intraspecific
Association Mapping
Arnold BJ; Lahner B; DaCosta JM ; et al. (2016)
Borrowed alleles and convergence in serpentine adaptation.
GP00001437
IREG2
F4KGN5
Physiology
unknown
Arabidopsis arenosa
(species)
Arabidopsis arenosa
(species) D
Ferroportin 2
Arabidopsis arenosa
(species)
Published - Accepted by Curator
FGF20
Organ loss (feathers ; scales)
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Wells KL; Hadad Y; Ben-Avraham D ; et al. (2012)
Genome-wide SNP scan of pooled DNA reveals nonsense mutation in FGF20 in the scaleless line of feath[...]
GP00002171
FGF20
Q9NP95
Morphology
g.62878803A>T c.535A>T p.R179* N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
FGF20
Gallus gallus
chicken - (species)
Published - Accepted by Curator
FGF4 retrogene
Limb size
Unknown,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Parker HG; VonHoldt BM; Quignon P ; et al. (2009)
An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs.
GP00000309
FGF4
J9P3I7
Morphology
Gene retroposition : 5kb insertion containing a FGF4 retrogene; 25Mb away from the complete (original) FGF4 gene
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FGF4 retrogene
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Cadieu E; Neff MW; Quignon P ; et al. (2009)
Coat variation in the domestic dog is governed by variants in three genes.
GP00000310
Fgf5
P15656
Morphology
Cys95Phe
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FGF5
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
fibrinogen-related protein 1 (FREP1)
Pathogen resistance (Plasmodium; malaria parasite)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Association Mapping
Li J; Wang X; Zhang G ; et al. (2013)
Genome-block expression-assisted association studies discover malaria resistance genes in Anopheles [...]
GP00001465
3290292
Q5TWN1
Physiology
c.T1325A p.Q442L
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
fibrinogen-related protein 1 (FREP1)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
fibrinogen-related protein 30 (FBN30)
Pathogen resistance (parasite)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Association Mapping
Li J; Wang X; Zhang G ; et al. (2013)
Genome-block expression-assisted association studies discover malaria resistance genes in Anopheles [...]
GP00001464
1270165
Q7QIK0
Physiology
c.T28C p.F10L
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
fibrinogen-related protein 30 (FBN30)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
Fkh
Silk yield
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xia Q; Guo Y; Zhang Z ; et al. (2009)
Complete resequencing of 40 genomes reveals domestication events and genes in silkworm (Bombyx).
GP00002411
fkh
P14734
Physiology
Increased expression in high yield strains. The Fkh gene encodes a transcription factor that activates glue genes together with Sage in salivary glands of Drosophila melanogaster.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Fkh
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
FMN1
Recombination rate
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001662
FMN1
Q68DA7
Physiology
On chromosome 10. Associated SNP located upstream of the gene
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
FMN1
Bos taurus
cattle - (species)
Published - Accepted by Curator
FOXI3
Hair (hypotrichosis)
Coding,
Insertion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Drögemüller C; Karlsson EK; Hytönen MK ; et al. (2008)
A mutation in hairless dogs implicates FOXI3 in ectodermal development.
GP00000351
FOXI3
B5RHS5
Morphology
Frameshift; 7-bp duplication within exon 1 N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FOXI3
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
FRM2
Xenobiotic resistance (citrinin)
Cis-regulatory,
Unknown
Saccharomyces paradoxus
(species) D
Domesticated
Association Mapping
Naranjo S; Smith JD; Artieri CG ; et al. (2015)
Dissecting the Genetic Basis of a Complex cis-Regulatory Adaptation.
GP00001311
FRM2
P37261
Physiology
mutations within 1kb in promotor region
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces paradoxus
(species) D
FRM2
Saccharomyces paradoxus
(species)
Published - Accepted by Curator
FST/MOCS2
coloration (head feathers)
Cis-regulatory,
Unknown
Erythrura gouldiae
Gouldian finch - (species)
Intraspecific
Association Mapping
Toomey MB; Marques CI; Andrade P ; et al. (2018)
A non-coding region near Follistatin controls head colour polymorphism in the Gouldian finch.
1 Additional References
GP00002125
Morphology
candidate locus is a small (approx. 70 kb) non-coding region mapping to the Z chromosome near the FST and MOCS2
Erythrura gouldiae
Gouldian finch - (species)
Erythrura gouldiae
Gouldian finch - (species)
FST/MOCS2
Erythrura gouldiae
Gouldian finch - (species)
Published - Accepted by Curator
FTO
Body size (weight; variance)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Frayling TM; Timpson NJ; Weedon MN ; et al. (2007)
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and[...]
4 Additional References
GP00000378
FTO
Q9C0B1
Morphology; Physiology
rs1421085 T-to-C single-nucleotide variant disrupts a conserved motif for the ARID5B repressor
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FTO
Homo sapiens
human - (species)
Published - Accepted by Curator
FTO
Body fat distribution (subcutaneous)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001560
FTO
Q9C0B1
Physiology
A>G in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FTO
Homo sapiens
human - (species)
Published - Accepted by Curator
GADD45G
Brain development
Cis-regulatory,
Deletion
Pan troglodytes
chimpanzee - (species) D
Interspecific
Association Mapping
McLean CY; Reno PL; Pollen AA ; et al. (2011)
Human-specific loss of regulatory DNA and the evolution of human-specific traits.
GP00000384
GADD45G
O95257
Morphology
Enhancer loss
Homo sapiens
human - (species)
Pan troglodytes
chimpanzee - (species) D
GADD45G
Pan troglodytes
chimpanzee - (species)
Published - Accepted by Curator
GATA-binding protein 2 (GATA2)
Hematopoiesis (blood basophil count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001610
GATA2
P23769
Physiology
G>A at the associated SNP. Another variant (rs6782812) in a pleiotropic myeloid enhancer near GATA2 reduced enhancer activity by 69%
Homo sapiens
human - (species)
Homo sapiens
human - (species)
GATA-binding protein 2 (GATA2)
Homo sapiens
human - (species)
Published - Accepted by Curator
GCLM
Recombination rate
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001664
GCLM
Q2T9Y6
Physiology
On chromosome 3. Associated SNP upstream of the gene
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
GCLM
Bos taurus
cattle - (species)
Published - Accepted by Curator
GDF5
Body size (height)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sanna S; Jackson AU; Nagaraja R ; et al. (2008)
Common variants in the GDF5-UQCC region are associated with variation in human height.
1 Additional References
GP00000387
GDF5
P43026
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
GDF5
Homo sapiens
human - (species)
Published - Accepted by Curator
GHSR
Body size (height)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Lettre G (2011)
Recent progress in the study of the genetics of height.
GP00000394
GHSR
Q92847
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
GHSR
Homo sapiens
human - (species)
Published - Accepted by Curator
GLABROUS1
Trichome density (leaf)
Unknown,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Hauser MT; Harr B; Schlötterer C (2001)
Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]
1 Additional References
GP00001242
GL1
P27900
Morphology
high frequency pattern of polymorphism identified in the third exon and 3' flank
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
GLABROUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Glucose-dependent insulinotropic polypeptide
Glycemia
Adipolysis rate
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Chang CL; Cai JJ; Lo C ; et al. (2011)
Adaptive selection of an incretin gene in Eurasian populations.
GP00000404
GIP
P09681
Physiology
Physiology
Ser103Gly
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-dependent insulinotropic polypeptide
Homo sapiens
human - (species)
Published - Accepted by Curator
glutamate dehydrogenase (GDH)
Silk yield
Unknown,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xiang H; Liu X; Li M ; et al. (2018)
The evolutionary road from wild moth to domestic silkworm.
1 Additional References
GP00002406
bb8
Q9VCN3
Physiology
Increased expression in the domesticated strains
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
glutamate dehydrogenase (GDH)
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
glutamate synthase (GOGAT)
Silk yield
Unknown,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xiang H; Liu X; Li M ; et al. (2018)
The evolutionary road from wild moth to domestic silkworm.
1 Additional References
GP00002407
GS
M9NFH8
Physiology
Increased expression in the domesticated strains at the larval stage
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
glutamate synthase (GOGAT)
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
glutamine synthetase 2 (GS)
Silk yield
Unknown,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xiang H; Liu X; Li M ; et al. (2018)
The evolutionary road from wild moth to domestic silkworm.
1 Additional References
GP00002405
Gs2
P20478
Physiology
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
glutamine synthetase 2 (GS)
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
Glycophorin GYPA-GYPB-GYPE cluster
Pathogen resistance (Plasmodium; malaria parasite)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
; Band G; Rockett KA ; et al. (2015)
A novel locus of resistance to severe malaria in a region of ancient balancing selection.
GP00000406
GYPA
P02724
Physiology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Glycophorin GYPA-GYPB-GYPE cluster
Homo sapiens
human - (species)
Published - Accepted by Curator
goldentouch
Coloration
Cis-regulatory,
Insertion
Amphilophus citrinellus
Midas cichlid - (species)
Intraspecific
Association Mapping
Kratochwil CF; Kautt AF; Nater A ; et al. (2022)
An intronic transposon insertion associates with a trans-species color polymorphism in Midas cichlid[...]
GP00002362
Morphology
"Using a new haplotype-resolved long-read assembly we discover an 8.2 kb, transposon-derived inverted repeat in an intron of an undescribed gene, which we term goldentouch in reference to the Greek myth of King Midas. The gene goldentouch is differentially expressed between morphs, presumably due to structural implications of inverted repeats in both DNA and/or RNA (cruciform and hairpin formation). The near-perfect association of the insertion with the phenotype across independent populations suggests that it likely underlies this trans-specific, stable polymorphism."
Amphilophus citrinellus
Midas cichlid - (species)
Amphilophus citrinellus
Midas cichlid - (species)
goldentouch
Amphilophus citrinellus
Midas cichlid - (species)
Published - Accepted by Curator
GPR133
Body size (weight)
Cis-regulatory,
Unknown
Mus musculus
house mouse - (species)
Domesticated
Association Mapping
Chan YF; Jones FC; McConnell E ; et al. (2012)
Parallel selection mapping using artificially selected mice reveals body weight control loci.
GP00000411
ADGRD1
Q6QNK2
Physiology
unknown
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
GPR133
Mus musculus
house mouse - (species)
Published - Accepted by Curator
GPR133
Body size (height; male-limited)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Tönjes A; Koriath M; Schleinitz D ; et al. (2009)
Genetic variation in GPR133 is associated with height: genome wide association study in the self-con[...]
GP00000412
ADGRD1
Q6QNK2
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
GPR133
Homo sapiens
human - (species)
Published - Accepted by Curator
GPR22
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Batcher K; Varney S; Affolter VK ; et al. (2022)
An SNN retrocopy insertion upstream of GPR22 is associated with dark red coat color in Poodles.
GP00002389
GPR22
Q99680
Morphology
A SNNL1 retrocopy element is inserted within the intron of COG5 and 2.8kbp upstream of and in the same orientation as GPR22. It is likely disrupting regulation of the CPR22 gene, resulting in higher gene expression and atypical expression in the skin.
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
GPR22
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
GPX2
Xenobiotic resistance (citrinin)
Cis-regulatory,
Unknown
Saccharomyces paradoxus
(species) D
Interspecific
Association Mapping
Naranjo S; Smith JD; Artieri CG ; et al. (2015)
Dissecting the Genetic Basis of a Complex cis-Regulatory Adaptation.
GP00001310
GPX2
P38143
Physiology
mutations within 1kb in promotor region
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces paradoxus
(species) D
GPX2
Saccharomyces paradoxus
(species)
Published - Accepted by Curator
GRAMD3
Body fat distribution (visceral)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001557
GRAMD2B
Q96HH9
Physiology
A>C in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
GRAMD3
Homo sapiens
human - (species)
Published - Accepted by Curator
GRAMD3
Coloration (skin)
Cis-regulatory,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Xu J; Lin S; Gao X ; et al. (2017)
Mapping of Id locus for dermal shank melanin in a Chinese indigenous chicken breed.
GP00002391
GRAMD3
F1NDM3
Morphology
No coding mutation in GRAMD3. The expression of GRAMD3 gene in the dermis tissues of the shank was significantly (P = 0.010738 < 0.05) higher in 350-day-old Gushi chickens characterized by the dermal shank pigmentation than in one-day-old Gushi chickens. Variation in the flanking region of GRAMD3 probably leads to the abnormal expression of GRAMD3.
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
GRAMD3
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Growth Hormone Receptor (GHR)
Body size (height)
Coding,
SNP
N
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Zoledziewska M; Sidore C; Chiang CWK ; et al. (2015)
Height-reducing variants and selection for short stature in Sardinia.
GP00000415
GHR
P10912
Morphology
Arg61* N
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Growth Hormone Receptor (GHR)
Homo sapiens
human - (species)
Published - Accepted by Curator
growth hormone receptor (GHR)
Body size (weight)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001475
GHR
Q9TU69
Morphology
G>A in exon 5 p.E191K in extracellular domain
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
growth hormone receptor (GHR)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
growth hormone receptor (GHR)
Body size (weight)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001476
GHR
Q9TU69
Morphology
C>T in exon 5 p.P177L in extracellular domain
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
growth hormone receptor (GHR)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Growth Hormone Receptor (GHR)
Body size (dwarfism)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Agarwal SK; Cogburn LA; Burnside J (1994)
Dysfunctional growth hormone receptor in a strain of sex-linked dwarf chicken: evidence for a mutati[...]
GP00002189
GHR
P10912
Morphology
deletion of 1773 bp in the 3' end of the coding region N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Growth Hormone Receptor (GHR)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
GSDMB
Body fat distribution (subcutaneous)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001556
GSDMB
Q8TAX9
Physiology
T>C in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
GSDMB
Homo sapiens
human - (species)
Published - Accepted by Curator
GSS (glutathione synthetase)
Coloration (skin)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Liu F; Visser M; Duffy DL ; et al. (2015)
Genetics of skin color variation in Europeans: genome-wide association studies with functional follo[...]
GP00001362
GSS
P48637
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
GSS (glutathione synthetase)
Homo sapiens
human - (species)
Published - Accepted by Curator
Gulo
Vitamin-C synthesis (loss)
Coding,
Complex Change
N
Cavia porcellus
domestic guinea pig - (species)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000420
Gulo
P58710
Physiology
pseudogenization involving invalidating mutations at most exons N
Mammalia
mammals - (class)
Cavia porcellus
domestic guinea pig - (species)
Gulo
Cavia porcellus
domestic guinea pig - (species)
Published - Accepted by Curator
Gulo
Vitamin-C synthesis (loss)
Coding,
Complex Change
N
Myotis lucifugus
little brown bat - (species)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000421
Gulo
P58710
Physiology
pseudogenization N
Mammalia
mammals - (class)
Myotis lucifugus
little brown bat - (species)
Gulo
Myotis lucifugus
little brown bat - (species)
Published - Accepted by Curator
Gulo
Vitamin-C synthesis (loss)
Coding,
Complex Change
N
Primates
(order)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000422
Gulo
P58710
Physiology
pseudogenization N
Mammalia
mammals - (class)
Primates
(order)
Gulo
Primates
(order)
Published - Accepted by Curator
Gulo
Vitamin-C synthesis (loss)
Coding,
Complex Change
N
Pteropus vampyrus
large flying fox - (species)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000423
Gulo
P58710
Physiology
pseudogenization N
Mammalia
mammals - (class)
Pteropus vampyrus
large flying fox - (species)
Gulo
Pteropus vampyrus
large flying fox - (species)
Published - Accepted by Curator
HAS2
Wrinkled skin (Shar-Pei dogs)
Cis-regulatory,
Unknown
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Akey JM; Ruhe AL; Akey DT ; et al. (2010)
Tracking footprints of artificial selection in the dog genome.
GP00000438
HAS2
J9PB16
Morphology
unknown
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
HAS2
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
HBS1L-MYB
Hematopoiesis (mean blood corpuscular hemoglobin)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001607
HBS1L
Q9Y450
Physiology
T>C at the associated SNP. Variants in MEP/erythroid-specific elements are putative functional variants
Homo sapiens
human - (species)
Homo sapiens
human - (species)
HBS1L-MYB
Homo sapiens
human - (species)
Published - Accepted by Curator
HBS1L-MYB
Hematopoiesis (mean blood corpuscular hemoglobin)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001608
HBS1L
Q9Y450
Physiology
A>G at the associated SNP. Variants in MEP/erythroid-specific elements are putative functional variants
Homo sapiens
human - (species)
Homo sapiens
human - (species)
HBS1L-MYB
Homo sapiens
human - (species)
Published - Accepted by Curator
HBS1L-MYB
Hematopoiesis (red blood cell count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001609
HBS1L
Q9Y450
Physiology
C>T at the associated SNP. Variants in MEP/erythroid-specific elements are putative functional variants
Homo sapiens
human - (species)
Homo sapiens
human - (species)
HBS1L-MYB
Homo sapiens
human - (species)
Published - Accepted by Curator
HBS1L-MYB
Hematopoiesis (blood platelet count)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001614
HBS1L
Q9Y450
Physiology
T>C at the associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
HBS1L-MYB
Homo sapiens
human - (species)
Published - Accepted by Curator
Heading Date 1 (HD1)
Flowering time
Coding,
Deletion
N
Sorghum virgatum
(species) D
Domesticated
Association Mapping
Liu H; Liu H; Zhou L ; et al. (2015)
Parallel Domestication of the Heading Date 1 Gene in Cereals.
GP00001408
CO
Q39057
Physiology
5bp deletion in the coding sequence leading to gene frameshift N
Sorghum bicolor
sorghum - (species)
Sorghum virgatum
(species) D
Heading Date 1 (HD1)
Sorghum virgatum
(species)
Published - Accepted by Curator
Heading Date 1 (HD1)
Flowering time
Coding,
Deletion
N
Sorghum
(genus) D
Interspecific
Association Mapping
Liu H; Liu H; Zhou L ; et al. (2015)
Parallel Domestication of the Heading Date 1 Gene in Cereals.
GP00001409
CO
Q39057
Physiology
80bp deletion in first exon leading to gene frameshift N
Sorghum
(genus)
Sorghum
(genus) D
Heading Date 1 (HD1)
Sorghum
(genus)
Published - Accepted by Curator
Heading Date 1 (HD1)
Flowering time
Coding,
SNP
N
Setaria italica
foxtail millet - (species) D
Domesticated
Association Mapping
Liu H; Liu H; Zhou L ; et al. (2015)
Parallel Domestication of the Heading Date 1 Gene in Cereals.
GP00001410
CO
Q39057
Physiology
splicing variant at position 787 GT>AT resulting in a splicing shift to position 754 introducing a deletion of 33 bp in the transcript and 11 aa in the protein N
Setaria italica
foxtail millet - (species)
Setaria italica
foxtail millet - (species) D
Heading Date 1 (HD1)
Setaria italica
foxtail millet - (species)
Published - Accepted by Curator
hemoglobin; HBB
Pathogen resistance (Plasmodium; malaria parasite)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Jallow M; Teo YY; Small KS ; et al. (2009)
Genome-wide and fine-resolution association analysis of malaria in West Africa.
GP00000466
HBB
P68871
Physiology
Glu6Val
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
hemoglobin; HBB
Homo sapiens
human - (species)
Published - Accepted by Curator
herfst
Coloration (wing; seasonal)
Cis-regulatory,
Unknown
Junonia coenia
buckeye - (species) D
Experimental Evolution
Association Mapping
van der Burg KRL; Lewis JJ; Brack BJ ; et al. (2020)
Genomic architecture of a genetically assimilated seasonal color pattern.
GP00002422
rk
Q7KTA0
Morphology
No variation in coding region. Strong association with cis-regulatory SNP. CRISPR mutant clones for the herfst gene display light tan scales.
Junonia coenia
buckeye - (species)
Junonia coenia
buckeye - (species) D
herfst
Junonia coenia
buckeye - (species)
Published - Accepted by Curator
high expression of osmotically responsive genes 2
Xenobiotic resistance (soil contamination; serpentine)
Unknown,
Unknown
Arabidopsis arenosa
(species) D
Intraspecific
Association Mapping
Arnold BJ; Lahner B; DaCosta JM ; et al. (2016)
Borrowed alleles and convergence in serpentine adaptation.
GP00001435
SAL1
Q42546
Physiology
unknown
Arabidopsis arenosa
(species)
Arabidopsis arenosa
(species) D
high expression of osmotically responsive genes 2
Arabidopsis arenosa
(species)
Published - Accepted by Curator
HLA-DRB1
Pathogen resistance (typhoid fever)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Dunstan SJ; Hue NT; Han B ; et al. (2014)
Variation at HLA-DRB1 is associated with resistance to enteric fever.
GP00000479
HLA-DRB1
Q30167
Physiology
uncharacterized
Homo sapiens
human - (species)
Homo sapiens
human - (species)
HLA-DRB1
Homo sapiens
human - (species)
Published - Accepted by Curator
HMGA2
Body size
Unknown,
Unknown
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Akey JM; Ruhe AL; Akey DT ; et al. (2010)
Tracking footprints of artificial selection in the dog genome.
1 Additional References
GP00000484
HMGA2
P52926
Morphology
unknown
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
HMGA2
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
HMGA2
Body size
Unknown,
Unknown
Equus caballus
horse - (species)
Domesticated
Association Mapping
Makvandi-Nejad S; Hoffman GE; Allen JJ ; et al. (2012)
Four loci explain 83% of size variation in the horse.
GP00000485
HMGA2
P52926
Morphology
unknown
Equus caballus
horse - (species)
Equus caballus
horse - (species)
HMGA2
Equus caballus
horse - (species)
Published - Accepted by Curator
HMGA2
Body size (height; bone mineral density)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Weedon MN; Lettre G; Freathy RM ; et al. (2007)
A common variant of HMGA2 is associated with adult and childhood height in the general population.
3 Additional References
GP00000486
HMGA2
P52926
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
HMGA2
Homo sapiens
human - (species)
Published - Accepted by Curator
HMGA2
Body size (dwarfism)
Cranio-facial morphology
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Association Mapping
Carneiro M; Hu D; Archer J ; et al. (2017)
Dwarfism and Altered Craniofacial Development in Rabbits Is Caused by a 12.1 kb Deletion at the HMGA[...]
GP00001675
HMGA2
P52926
Morphology
Morphology
deletion of 12.1 kb overlapping the promoter region and first three exons leading to inactivation of the gene. The 5'-end of this deletion overlaps a CSINE2 element N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
HMGA2
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
HMX1
Organ size (ear; cropped)
Cis-regulatory,
Insertion
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Koch CT; Bruggmann R; Tetens J ; et al. (2013)
A non-coding genomic duplication at the HMX1 locus is associated with crop ears in highland cattle.
GP00002191
HMX1
Q9NP08
Morphology
76bp duplication in an ultra-conserved enhancer located 148 kb apart of the coding region of HMX1
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
HMX1
Bos taurus
cattle - (species)
Published - Accepted by Curator
HOXC8 - uncertain
Feathers (crest morphology)
Cis-regulatory,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Wang Y; Gao Y; Imsland F ; et al. (2012)
The crest phenotype in chicken is associated with ectopic expression of HOXC8 in cranial skin.
GP00000489
HOXC8
Q9YH13
Morphology
unknown
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
HOXC8 - uncertain
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Hps4
Coloration (albinism)
Coding,
Deletion
N
Ictalurus punctatus
channel catfish - (species) D
Intraspecific
Association Mapping
Li Y; Geng X; Bao L ; et al. (2017)
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in [...]
GP00002122
Hps4
Q99KG7
Morphology
A 99‐bp deletion was identified spanning intron 2 and exon 3 junction of the Hps4 gene N
Ictalurus punctatus
channel catfish - (species)
Ictalurus punctatus
channel catfish - (species) D
Hps4
Ictalurus punctatus
channel catfish - (species)
Published - Accepted by Curator
HTR2C serotonin receptor
Immune response (complement activation)
Unknown,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Biscarini F; Bovenhuis H; van Arendonk JA ; et al. (2010)
Across-line SNP association study of innate and adaptive immune response in laying hens.
GP00001595
HTR2C
F1N989
Physiology
unknown
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
HTR2C serotonin receptor
Gallus gallus
chicken - (species)
Published - Accepted by Curator
HTR3A serotonin receptor
Immune response (antibody titre)
Unknown,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Biscarini F; Bovenhuis H; van Arendonk JA ; et al. (2010)
Across-line SNP association study of innate and adaptive immune response in laying hens.
GP00001596
HTR3A
A0A1D5P8L2
Physiology
unknown
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
HTR3A serotonin receptor
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Human Leukocyte Antigen-B (HLA-B)
Pathogen resistance (HIV control)
5 Mutations:
Coding
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
; Pereyra F; Jia X ; et al. (2010)
The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
GP00000492
HLA-B
P01889
Physiology
5 mutations
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Human Leukocyte Antigen-B (HLA-B)
Homo sapiens
human - (species)
Published - Accepted by Curator
HvbHLH1
Coloration
Coding,
Deletion
N
Hordeum vulgare
(species) D
Domesticated
Association Mapping
Cockram J; White J; Zuluaga DL ; et al. (2010)
Genome-wide association mapping to candidate polymorphism resolution in the unsequenced barley genom[...]
GP00000493
bHLH1
E5FCX3
Morphology
16bp deletion resulting in premature stop codon N
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
HvbHLH1
Hordeum vulgare
(species)
Published - Accepted by Curator
HXT6/7
Low-glucose adaptation (experimental evolution)
Gene Amplification,
Complex Change
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Brown CJ; Todd KM; Rosenzweig RF (1998)
Multiple duplications of yeast hexose transport genes in response to selection in a glucose-limited [...]
4 Additional References
GP00000494
HXT6
P39003
Physiology
expansion by inequal recombination between HXT6 and HXT7 (99% nucleotide similarity) ; replicated in two independent studies and in multiple lines
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
HXT6/7
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
I Kappa B Kinase Interacting Protein (IKBIP)
Lifespan
Unknown,
Unknown
Nothobranchius furzeri
turquoise killifish - (species)
Intraspecific
Association Mapping
Reichwald K; Petzold A; Koch P ; et al. (2015)
Insights into Sex Chromosome Evolution and Aging from the Genome of a Short-Lived Fish.
GP00001678
IKBIP
Q70UQ0
Physiology
Under positive selection; down regulated in aging skin
Nothobranchius furzeri
turquoise killifish - (species)
Nothobranchius furzeri
turquoise killifish - (species)
I Kappa B Kinase Interacting Protein (IKBIP)
Nothobranchius furzeri
turquoise killifish - (species)
Published - Accepted by Curator
IGK
Pathogen resistance
Unknown,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species)
Intraspecific
Association Mapping
Jones FC; Chan YF; Schmutz J ; et al. (2012)
A genome-wide SNP genotyping array reveals patterns of global and repeated species-pair divergence i[...]
GP00001382
IGKV1-5
P01602
Physiology
unknown
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
IGK
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
Indian hedgehog (IHH)
Limb size (legs)
Gene Loss,
Deletion
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Jin S; Zhu F; Wang Y ; et al. (2016)
Deletion of Indian hedgehog gene causes dominant semi-lethal Creeper trait in chicken.
GP00002194
IHH
Q98938
Morphology
11,896 bp large deletion region (chr7: 21,798,705-21,810,600) covering the entire Indian hedgehog (IHH) gene N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Indian hedgehog (IHH)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Inhibitor of DNA binding 3 (id3)
Lifespan
Unknown,
Unknown
Nothobranchius furzeri
turquoise killifish - (species) D
Intraspecific
Association Mapping
Reichwald K; Petzold A; Koch P ; et al. (2015)
Insights into Sex Chromosome Evolution and Aging from the Genome of a Short-Lived Fish.
GP00001676
ID3
Q02535
Physiology
Signature of selection for id3. upregulated during aging in brain and skin. A radical substitution of a non-polar by a charged aa (A>Q) followed by a 2-aa deletion in the C-terminus
Nothobranchius furzeri
turquoise killifish - (species)
Nothobranchius furzeri
turquoise killifish - (species) D
Inhibitor of DNA binding 3 (id3)
Nothobranchius furzeri
turquoise killifish - (species)
Published - Accepted by Curator
Inhibitor of DNA binding 3 (id3)
Lifespan
Coding,
Deletion
Nothobranchius pienaari
(species) D
Interspecific
Association Mapping
Reichwald K; Petzold A; Koch P ; et al. (2015)
Insights into Sex Chromosome Evolution and Aging from the Genome of a Short-Lived Fish.
GP00001677
ID3
Q02535
Physiology
One evolutionarily conserved aa (E) is deleted in id3 C-terminus
Nothobranchius rachovii
bluefin notho - (species)
Nothobranchius pienaari
(species) D
Inhibitor of DNA binding 3 (id3)
Nothobranchius pienaari
(species)
Published - Accepted by Curator
Insulin-like growth factor 1 (IGF1)
Body size
Cis-regulatory,
Unknown
Canis lupus familiaris
dog - (subspecies)
Domesticated
Association Mapping
Sutter NB; Bustamante CD; Chase K ; et al. (2007)
A single IGF1 allele is a major determinant of small size in dogs.
1 Additional References
GP00000501
Igf1
P05017
Morphology
Not identified / several haplotypes
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies)
Insulin-like growth factor 1 (IGF1)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Insulin-like growth factor receptor 1 (IGF1R)
Body size (height)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Lettre G (2011)
Recent progress in the study of the genetics of height.
GP00000503
IGF1R
P08069
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Insulin-like growth factor receptor 1 (IGF1R)
Homo sapiens
human - (species)
Published - Accepted by Curator
Interleukin 10 (IL10)
Immune response (antibody titre and complement activation)
Unknown,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Biscarini F; Bovenhuis H; van Arendonk JA ; et al. (2010)
Across-line SNP association study of innate and adaptive immune response in laying hens.
GP00001597
IL10
Q6A2H4
Physiology
unknown
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
Interleukin 10 (IL10)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Interleukin 12B (IL12B)
Immune response (antibody titre)
Unknown,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Biscarini F; Bovenhuis H; van Arendonk JA ; et al. (2010)
Across-line SNP association study of innate and adaptive immune response in laying hens.
GP00001594
IL-12B
Q6X0K9
Physiology
unknown
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
Interleukin 12B (IL12B)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Interleukin 17A (IL17A)
Immune response (antibody titre and complement activation)
Unknown,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Biscarini F; Bovenhuis H; van Arendonk JA ; et al. (2010)
Across-line SNP association study of innate and adaptive immune response in laying hens.
GP00001593
IL17A
B4ER12
Physiology
unknown
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
Interleukin 17A (IL17A)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
IRA1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001709
IRA1
P18963
Physiology
Arg1583Lys (G>A at position 521875 according to Table 1) - AGR to AAR position 521875
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
IRA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
IRF4
Coloration (skin)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Praetorius C; Grill C; Stacey SN ; et al. (2013)
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway[...]
1 Additional References
GP00001364
IRF4
Q15306
Morphology
a C>T substitution in intron4 located within an enhancer
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
IRF4
Homo sapiens
human - (species)
Published - Accepted by Curator
JAK2
Hematopoiesis (blood platelet count)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001613
JAK2
O60674
Physiology
G>A at the associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
JAK2
Homo sapiens
human - (species)
Published - Accepted by Curator
JAZF1
Body size (height)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Johansson A; Marroni F; Hayward C ; et al. (2009)
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide assoc[...]
1 Additional References
GP00000507
JAZF1
Q86VZ6
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
JAZF1
Homo sapiens
human - (species)
Published - Accepted by Curator
Jheh1-Jheh2-Jheh3 complex
Oxidative stress resistance
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
González J; Macpherson JM; Petrov DA (2009)
A recent adaptive transposable element insertion near highly conserved developmental loci in Drosoph[...]
1 Additional References
GP00001782
JHEH
Q6U6J0
Physiology
insertion of a transposable element Bari-Jheh associated with downregulation of Juvenile hormone epoxy hydroxylase 2 (Jheh2) and Jheh3 in nonstress conditions and with upregulation of Jheh1 and Jheh2 and downregulation of Jheh3 under oxidative stress conditions
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Jheh1-Jheh2-Jheh3 complex
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
JMJD1C
Hematopoiesis (mean blood platelet volume)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001606
JMJD1C
Q15652
Physiology
T>A at the associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
JMJD1C
Homo sapiens
human - (species)
Published - Accepted by Curator
K+ uptake permease 9
Xenobiotic resistance (soil contamination; serpentine)
Unknown,
Unknown
Arabidopsis arenosa
(species) D
Intraspecific
Association Mapping
Arnold BJ; Lahner B; DaCosta JM ; et al. (2016)
Borrowed alleles and convergence in serpentine adaptation.
GP00001430
POT9
O49423
Physiology
unknown
Arabidopsis arenosa
(species)
Arabidopsis arenosa
(species) D
K+ uptake permease 9
Arabidopsis arenosa
(species)
Published - Accepted by Curator
KCNH4 - uncertain
Freshwater adaptation
Unknown,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Association Mapping
Jones FC; Grabherr MG; Chan YF ; et al. (2012)
The genomic basis of adaptive evolution in threespine sticklebacks.
GP00000510
KCNH4
Q9UQ05
Physiology
Large Inversion resulting in alternative transcripts
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
KCNH4 - uncertain
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
KCNQ1
Body size (height)
Unknown,
Epigenetic Change
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Zoledziewska M; Sidore C; Chiang CWK ; et al. (2015)
Height-reducing variants and selection for short stature in Sardinia.
GP00000511
KCNQ1
P51787
Morphology
unknown causative change in an imprinted region - consistent with maternal inheritance detected by the association
Homo sapiens
human - (species)
Homo sapiens
human - (species)
KCNQ1
Homo sapiens
human - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001510
PF3D7_1343700
Q8IDQ2
Physiology
D353Y affecting the BTB/POZ domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001511
PF3D7_1343700
Q8IDQ2
Physiology
P441L affecting the BTB/POZ domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001512
PF3D7_1343700
Q8IDQ2
Physiology
F446I affecting the encoded propeller and BTB/POZ domains
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001513
PF3D7_1343700
Q8IDQ2
Physiology
G449A affecting the encoded propeller and BTB/POZ domains
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001514
PF3D7_1343700
Q8IDQ2
Physiology
N458Y affecting the encoded propeller and BTB/POZ domains
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001515
PF3D7_1343700
Q8IDQ2
Physiology
A481V affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001516
PF3D7_1343700
Q8IDQ2
Physiology
p.Tyr493His affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001517
PF3D7_1343700
Q8IDQ2
Physiology
N525D affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001518
PF3D7_1343700
Q8IDQ2
Physiology
N537I affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001519
PF3D7_1343700
Q8IDQ2
Physiology
p.Arg539Thr affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001520
PF3D7_1343700
Q8IDQ2
Physiology
p.Ile543Thr affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001521
PF3D7_1343700
Q8IDQ2
Physiology
p.Pro553Leu affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001522
PF3D7_1343700
Q8IDQ2
Physiology
R561H affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001523
PF3D7_1343700
Q8IDQ2
Physiology
V568G affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001524
PF3D7_1343700
Q8IDQ2
Physiology
P574L affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001525
PF3D7_1343700
Q8IDQ2
Physiology
p.Cys580Tyr affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001526
PF3D7_1343700
Q8IDQ2
Physiology
D584V affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001527
PF3D7_1343700
Q8IDQ2
Physiology
F673I affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001528
PF3D7_1343700
Q8IDQ2
Physiology
A675V affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001529
PF3D7_1343700
Q8IDQ2
Physiology
H719N affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kin of irre (kire)
Xenobiotic resistance (methylmercury ; development)
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Association Mapping
Montgomery SL; Vorojeikina D; Huang W ; et al. (2014)
Genome-wide association analysis of tolerance to methylmercury toxicity in Drosophila implicates myo[...]
GP00001398
kirre
Q9N9Y9
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
kin of irre (kire)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Insertion
Felis catus
domestic cat - (species) D
Domesticated
Association Mapping
David VA; Menotti-Raymond M; Wallace AC ; et al. (2014)
Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic [...]
GP00000517
Kit
P05532
Morphology
full-length (7125 bp) FERV1 endogenous retrovirus insertion in intron
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Kit (type III receptor protein-tyrosine kinase)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Indel
Felis catus
domestic cat - (species) D
Domesticated
Association Mapping
Montague MJ; Li G; Gandolfi B ; et al. (2014)
Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology[...]
GP00000518
Kit
P05532
Morphology
Two nucleotide changes affecting site 3 of codon 345 and site 1 of codon 346 - resulting in Glu345Asp + His346Asn
c. 1035_1036delinsCA GAGCAY > GACAAY
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Kit (type III receptor protein-tyrosine kinase)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Deletion
Felis catus
domestic cat - (species) D
Domesticated
Association Mapping
David VA; Menotti-Raymond M; Wallace AC ; et al. (2014)
Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic [...]
GP00000519
Kit
P05532
Morphology
Excision of the full-length FERV1 elevement leaving the two LTR residues
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Kit (type III receptor protein-tyrosine kinase)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Unknown,
Unknown
Vulpes vulpes
red fox - (species) D
Domesticated
Association Mapping
Kukekova AV; Johnson JL; Kharlamova AV ; et al. (2016)
Georgian white coat color of red fox (Vulpes vulpes) maps to fox chromosome 2 in the region containi[...]
GP00001328
Kit
P05532
Morphology
unknown
Vulpes vulpes
red fox - (species)
Vulpes vulpes
red fox - (species) D
Kit (type III receptor protein-tyrosine kinase)
Vulpes vulpes
red fox - (species)
Published - Accepted by Curator
Kit ligand
Coloration (coat)
Cis-regulatory,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Miller CT; Beleza S; Pollen AA ; et al. (2007)
cis-Regulatory changes in Kit ligand expression and parallel evolution of pigmentation in sticklebac[...]
1 Additional References
GP00000522
KITLG
P21583
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Kit ligand
Homo sapiens
human - (species)
Published - Accepted by Curator
Kit ligand
Coloration (hair)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Guenther CA; Tasic B; Luo L ; et al. (2014)
A molecular basis for classic blond hair color in Europeans.
GP00001349
KITLG
P21583
Morphology
A>G SNP(rs12821256) 350kb upstream of transcription start
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Kit ligand
Homo sapiens
human - (species)
Published - Accepted by Curator
KRT25
Hair type (curly)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Morgenthaler C; Diribarne M; Capitan A ; et al. (2017)
A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly[...]
1 Additional References
GP00002230
Krt25
Q8VCW2
Morphology
c.266G>A p.Arg89His
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
KRT25
Equus caballus
horse - (species)
Published - Accepted by Curator
KRT25
Hair type (curly)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Thomer A; Gottschalk M; Christmann A ; et al. (2018)
An epistatic effect of KRT25 on SP6 is involved in curly coat in horses.
GP00002288
Sp6
Q9ESX2
Morphology
c.1090G>A p.Asp364Asn
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
KRT25
Equus caballus
horse - (species)
Published - Accepted by Curator
KRT27
Hair type (curly)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Daetwyler HD; Capitan A; Pausch H ; et al. (2014)
Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle.
GP00002026
KRT27
Q0P5J6
Morphology
g.41636961C>G c.276C>G p.Asn92Lys
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
KRT27
Bos taurus
cattle - (species)
Published - Accepted by Curator
KRT71
Hair type (curly)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Cadieu E; Neff MW; Quignon P ; et al. (2009)
Coat variation in the domestic dog is governed by variants in three genes.
GP00000524
Krt71
Q9R0H5
Morphology
c.451A>T in exon 2 - Arg151Trp
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
KRT71
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
KRT71
Hair type (curly and hairless)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Gandolfi B; Outerbridge CA; Beresford LG ; et al. (2010)
The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71.
GP00001730
Krt71
Q9R0H5
Morphology
eight base pair deletion mutation in exon one of the keratin 71 (KRT71) c.334delTGTGCCCA p.Met93AsnfsX14 N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
KRT71
Bos taurus
cattle - (species)
Published - Accepted by Curator
KRT75L4
Feathers
Coding,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Guo X; Li YQ; Wang MS ; et al. (2018)
A parallel mechanism underlying frizzle in domestic chickens.
GP00002334
KRT75L4
A0A1L1RKR4
Morphology
15bp deletion resulting in loss of 5 conserved amino-acids
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
KRT75L4
Gallus gallus
chicken - (species)
Published - Accepted by Curator
KUK
Root development
2 Mutations:
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Meijón M; Satbhai SB; Tsuchimatsu T ; et al. (2014)
Genome-wide association study using cellular traits identifies a new regulator of root development i[...]
GP00001233
At1g60370
O80758
Morphology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
KUK
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
LACCASE 8
Xenobiotic resistance (soil contamination; serpentine)
Unknown,
Unknown
Arabidopsis arenosa
(species) D
Intraspecific
Association Mapping
Arnold BJ; Lahner B; DaCosta JM ; et al. (2016)
Borrowed alleles and convergence in serpentine adaptation.
GP00001436
LAC8
Q9LFD2
Physiology
unknown
Arabidopsis arenosa
(species)
Arabidopsis arenosa
(species) D
LACCASE 8
Arabidopsis arenosa
(species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007)
Convergent adaptation of human lactase persistence in Africa and Europe.
GP00000530
LCT
P09848
Physiology
C-13907G
Homo sapiens
human - (species)
Homo sapiens
human - (species)
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007)
Convergent adaptation of human lactase persistence in Africa and Europe.
GP00000531
LCT
P09848
Physiology
T-13915G
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007)
Convergent adaptation of human lactase persistence in Africa and Europe.
1 Additional References
GP00000532
LCT
P09848
Physiology
G14010C ; In Khoe Pastoralist group lactase persistence (LP)-regulatory region 2 SNPs with greatest frequencies 13910C>T and 14010G>C
Homo sapiens
human - (species)
Homo sapiens
human - (species)
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Jones BL; Raga TO; Liebert A ; et al. (2013)
Diversity of lactase persistence alleles in Ethiopia: signature of a soft selective sweep.
1 Additional References
GP00001714
LCT
P09848
Physiology
T14009G (rs869051967) (ss 820486563)
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
LCORL
Body size
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Horikoshi M; Yaghootkar H; Mook-Kanamori DO ; et al. (2013)
New loci associated with birth weight identify genetic links between intrauterine growth[...]
GP00000537
LCORL
Q8N3X6
Morphology
Not identified
Homo sapiens
human - (species)
Homo sapiens
human - (species)
LCORL
Homo sapiens
human - (species)
Published - Accepted by Curator
Ldia2 - Diaphanous-related formin
Shell chirality (coiling)
Coding,
Deletion
N
Lymnaea stagnalis
great pond snail - (species) D
Intraspecific
Association Mapping
Davison A; McDowell GS; Holden JM ; et al. (2016)
Formin Is Associated with Left-Right Asymmetry in the Pond Snail and the Frog.
GP00000538
DIAPH1
O60610
Morphology
1bp deletion resulting in frame-shift (pseudogenization) N
Lymnaea stagnalis
great pond snail - (species)
Lymnaea stagnalis
great pond snail - (species) D
Ldia2 - Diaphanous-related formin
Lymnaea stagnalis
great pond snail - (species)
Published - Accepted by Curator
LIN28B
Body size (height)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Lettre G (2011)
Recent progress in the study of the genetics of height.
GP00000548
LIN28B
Q6ZN17
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
LIN28B
Homo sapiens
human - (species)
Published - Accepted by Curator
LOC105383139
Courtship behavior
Other,
Insertion
Lepidoptera
butterflies and moths - (order) D
Intergeneric or Higher
Association Mapping
Li Y; Liu Z; Liu C ; et al. (2022)
HGT is widespread in insects and contributes to male courtship in lepidopterans.
GP00002412
Behavior
Horizontal Gene Transfer from Listeria bacteria to Lepidoptera of an entire gene coding region. The gene contains an alcohol dehydrogenase domain and a zinc-binding dehydrogenase domain.
Trichoptera
caddisflies - (order)
Lepidoptera
butterflies and moths - (order) D
LOC105383139
Lepidoptera
butterflies and moths - (order)
Published - Accepted by Curator
Low-density lipoprotein receptor-related protein 2
Organ size (eye; enlarged)
3 Mutations:
Coding
N
Carassius auratus
goldfish - (species) D
Domesticated
Association Mapping
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002349
LRP2
P98164
Morphology
3 mutations
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Low-density lipoprotein receptor-related protein 2
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
LPAR1
Hematopoiesis (blood monocyte count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001612
LPAR1
Q92633
Physiology
A>G at the associated SNP. 2 variants located in an uncharacterized long noncoding RNA
Homo sapiens
human - (species)
Homo sapiens
human - (species)
LPAR1
Homo sapiens
human - (species)
Published - Accepted by Curator
LY86
Body fat distribution (visceral/subcutaneous ratio)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001562
LY86
O95711
Physiology
A>T in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
LY86
Homo sapiens
human - (species)
Published - Accepted by Curator
LYPLAL1
Body fat distribution (visceral/subcutaneous ratio)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001561
LYPLAL1
Q5VWZ2
Physiology
T>C in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
LYPLAL1
Homo sapiens
human - (species)
Published - Accepted by Curator
MAM3
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001303
PMA1
P05030
Physiology
C>G (Gly > Arg) @ position 250
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MAM3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MAM3
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001304
PMA1
P05030
Physiology
C>T (Val > Ile) @ position 1120
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MAM3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MAM3
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001305
PMA1
P05030
Physiology
C>T (Ser > Asn) @ position 806
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MAM3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MARVELD3
Pathogen resistance (Plasmodium; malaria parasite)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Timmann C; Thye T; Vens M ; et al. (2012)
Genome-wide association study indicates two novel resistance loci for severe malaria.
GP00000564
MARVELD3
Q96A59
Physiology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MARVELD3
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Box NF; Wyeth JR; O'Gorman LE ; et al. (1997)
Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.
3 Additional References
GP00000618
MC1R
Q01726
Morphology
Val60Leu
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000619
MC1R
Q01726
Morphology
Asp84Glu
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000620
MC1R
Q01726
Morphology
Val92Met
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000621
MC1R
Q01726
Morphology
Arg142His
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000622
MC1R
Q01726
Morphology
Arg151Cys
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000623
MC1R
Q01726
Morphology
Ile155Thr
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000624
MC1R
Q01726
Morphology
Arg160Trp
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000625
MC1R
Q01726
Morphology
Arg163Gln
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000626
MC1R
Q01726
Morphology
Asp294His
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Monarcha castaneiventris
Makira monarch - (species) D
Intraspecific
Association Mapping
Uy JA; Cooper EA; Cutie S ; et al. (2016)
Mutations in different pigmentation genes are associated with parallel melanism in island flycatcher[...]
GP00001333
MC1R
Q01726
Morphology
Asp119Asn
Monarcha castaneiventris
Makira monarch - (species)
Monarcha castaneiventris
Makira monarch - (species) D
MC1R
Monarcha castaneiventris
Makira monarch - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Calidris pugnax
ruff - (species) D
Intraspecific
Association Mapping
Lamichhaney S; Fan G; Widemo F ; et al. (2016)
Structural genomic changes underlie alternative reproductive strategies in the ruff (Philomachus pug[...]
1 Additional References
GP00001466
MC1R
Q01726
Morphology
Several amino acid changes. The His207Arg substitution most likely has functional consequences because the same variant is associated with light color in the red-footed booby.
Calidris pugnax
ruff - (species)
Calidris pugnax
ruff - (species) D
MC1R
Calidris pugnax
ruff - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Cis-regulatory,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Dürig N; Letko A; Lepori V ; et al. (2018)
Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies.
GP00002302
MC1R
Q01726
Morphology
single nucleotide variant within the MITF binding site of the canine MC1R promoter
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
MC1R
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MDR1
Xenobiotic resistance
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Kimchi-Sarfaty C; Oh JM; Kim IW ; et al. (2007)
A "silent" polymorphism in the MDR1 gene changes substrate specificity.
GP00001858
ABCB1
P08183
Physiology
C3435T - synonymous mutation Ile - The SNP at position 26/3435 that changes the codon from ATC to ATT (Ile) reduces the codon usage from 47% to 35% (RSCU values change from 20.9 to 15.8). Leads to similar mRNA and protein levels but altered conformation of the protein.
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MDR1
Homo sapiens
human - (species)
Published - Accepted by Curator
MDS3
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
1 Additional References
GP00000641
MDS3
P53094
Physiology
Phe - Val substitution
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MDS3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MEP2
Salt tolerance (experimental evolution; low ammonium)
Other,
Complex Change
Saccharomyces uvarum
(species)
Experimental Evolution
Association Mapping
Dunn B; Paulish T; Stanbery A ; et al. (2013)
Recurrent rearrangement during adaptive evolution in an interspecific yeast hybrid suggests a model [...]
GP00000651
MEP2
P41948
Physiology
Chimeric gene in diploid hybrids formed by recombination between the parental alleles
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces uvarum
(species)
MEP2
Saccharomyces uvarum
(species)
Published - Accepted by Curator
metallothionein (MtnA)
Oxidative stress resistance
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
Catalán A; Glaser-Schmitt A; Argyridou E ; et al. (2016)
An Indel Polymorphism in the MtnA 3' Untranslated Region Is Associated with Gene Expression Variatio[...]
GP00002018
MtnA
P04357
Physiology
49bp deletion in the MtnA 3'UTR
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
metallothionein (MtnA)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
metallothionein CUP1
Metal tolerance (copper)
Gene Amplification,
Complex Change
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001289
CUP1-1
P0CX80
Physiology
Gene duplication
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
metallothionein CUP1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MFSD12
Coloration (coat)
Coding,
Insertion
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Tanaka J; Leeb T; Rushton J ; et al. (2019)
Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.
GP00002243
MFSD12
Q6NUT3
Morphology
p.(Asp201fs) due to c.600Cins N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
MFSD12
Equus caballus
horse - (species)
Published - Accepted by Curator
MFSD12
Coloration (coat)
Coding,
SNP
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Hédan B; Cadieu E; Botherel N ; et al. (2019)
Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White[...]
GP00002244
MFSD12
Q6NUT3
Morphology
c.151C>T p.Arg51Cys N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
MFSD12
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MFSD12
Coloration (skin)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Adhikari K; Mendoza-Revilla J; Sohail A ; et al. (2019)
A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasi[...]
1 Additional References
GP00002245
MFSD12
Q6NUT3
Morphology
Y182H N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MFSD12
Homo sapiens
human - (species)
Published - Accepted by Curator
MFSD12
Coloration (skin)
Cis-regulatory,
Complex Change
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Crawford NG; Kelly DE; Hansen MEB ; et al. (2017)
Loci associated with skin pigmentation identified in African populations.
GP00002246
MFSD12
Q6NUT3
Morphology
eight potentially causal SNPs cluster in two regions: one within MFSD12 (intronic SNP and synonymous SNP in exon 9) and the other ~7600 to 9000 base pairs (bp) upstream of MFSD12 ; many SNPs are in predicted regulatory regions active in melanocytes and/or keratinocytes show enhancer activity in luciferase expression assays N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MFSD12
Homo sapiens
human - (species)
Published - Accepted by Curator
MGAM
Starch processing
Cis-regulatory,
Unknown
Canis lupus familiaris
dog - (subspecies)
Domesticated
Association Mapping
Axelsson E; Ratnakumar A; Arendt ML ; et al. (2013)
The genomic signature of dog domestication reveals adaptation to a starch-rich diet.
GP00000654
MGAM
O43451
Physiology
unknown
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies)
MGAM
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Cis-regulatory,
Deletion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Karlsson EK; Baranowska I; Wade CM ; et al. (2007)
Efficient mapping of mendelian traits in dogs through genome-wide association.
1 Additional References
GP00000657
Mitf
Q08874
Morphology
g.21836232_21836427ins>del - this SINE-insertion variant is the first of three possible regulatory variants described by Karlsson et al. (2007). Its genomic location and description were kindly provided by Professor Claire Wade in August 2018. OMIA 000214-9615
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Microphtalmia-associated transcription factor
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Unknown,
Unknown
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Hofstetter S; Seefried F; Häfliger IM ; et al. (2019)
A non-coding regulatory variant in the 5'-region of the MITF gene is associated with white-spotted c[...]
GP00002326
Mitf
Q08874
Morphology
unknown based SNP association
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Microphtalmia-associated transcription factor
Bos taurus
cattle - (species)
Published - Accepted by Curator
MKT1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
1 Additional References
GP00000662
MKT1
P40850
Physiology
D30G (reversion; functionally verified); evolved independently in 3 lines
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MKT1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Mlana
Coloration (feathers ; white-spotting)
Gene Amplification,
Complex Change
Columba livia
rock pigeon - (species) D
Domesticated
Association Mapping
Bruders R; Van Hollebeke H; Osborne EJ ; et al. (2020)
A copy number variant is associated with a spectrum of pigmentation patterns in the rock pigeon (Col[...]
GP00002342
MLANA
Q16655
Morphology
CNV with 7 copies of the outer 77-kb segment and 14 copies of the inner 25-kb segment in the genomes of female (ZStW) Almond pigeons
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
Mlana
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
MNN4
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001711
MNN4
P36044
Physiology
Lys924Glu (A>G at position 64698 according to Table 1) - AAR to GAR position 64698
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MNN4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Molybdenum transporter1 (MOT1)
Metal tolerance
Gene Amplification,
Insertion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Association Mapping
Forsberg SK; Andreatta ME; Huang XY ; et al. (2015)
The Multi-allelic Genetic Architecture of a Variance-Heterogeneity Locus for Molybdenum Concentratio[...]
GP00000677
MOT1
Q9SL95
Physiology
330bp duplication followed by minor indels
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Molybdenum transporter1 (MOT1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
MRC2
Muscular mass
Tail shape (crooked ; defect)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Fasquelle C; Sartelet A; Li W ; et al. (2009)
Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Croo[...]
2 Additional References
GP00002264
MRC2
Q9UBG0
Physiology
Morphology
c.2904-2905delAG p.Gly934X N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
MRC2
Bos taurus
cattle - (species)
Published - Accepted by Curator
MRC2
Muscular mass
Tail shape (crooked ; defect)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Fasquelle C; Sartelet A; Li W ; et al. (2009)
Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Croo[...]
2 Additional References
GP00002265
MRC2
Q9UBG0
Physiology
Morphology
c.1906T>G p.C636G
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
MRC2
Bos taurus
cattle - (species)
Published - Accepted by Curator
MSH4
Recombination rate (female)
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001665
MSH4
E1BK76
Physiology
On chromosome 3. Associated SNP located in the intron of the gene
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
MSH4
Bos taurus
cattle - (species)
Published - Accepted by Curator
MTH1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00000679
CUP1-1
P0CX80
Physiology
1bp substitution resulting in premature stop codon N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MTH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MTH1
Low-glucose adaptation (experimental evolution)
Coding,
Insertion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gresham D; Desai MM; Tucker CM ; et al. (2008)
The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments [...]
GP00000680
CUP1-1
P0CX80
Physiology
Ty retrotranposition resulting in a coding frameshift N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MTH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Mucin gene family
Salt tolerance
Unknown,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species)
Intraspecific
Association Mapping
Jones FC; Chan YF; Schmutz J ; et al. (2012)
A genome-wide SNP genotyping array reveals patterns of global and repeated species-pair divergence i[...]
GP00001378
MUC1
P15941
Physiology
unknown
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Mucin gene family
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
MUK1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001713
MUK1
Q02866
Physiology
Ser441STP(C>A at position 422266 according to Table 1) - TCR to TAR position 422266
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MUK1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Multidrug resistance protein 1 (pvmdr1)
Xenobiotic resistance (mefloquine)
Gene Amplification,
Insertion
Plasmodium vivax
malaria parasite P. vivax - (species) D
Intraspecific
Association Mapping
Pearson RD; Amato R; Auburn S ; et al. (2016)
Genomic analysis of local variation and recent evolution in Plasmodium vivax.
GP00001482
B7STB0
Physiology
37 kb duplication on chromosome 10 that includes pvmdr1
Plasmodium vivax
malaria parasite P. vivax - (species)
Plasmodium vivax
malaria parasite P. vivax - (species) D
Multidrug resistance protein 1 (pvmdr1)
Plasmodium vivax
malaria parasite P. vivax - (species)
Published - Accepted by Curator
multidrug resistance protein 2
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001532
PF3D7_1447900
Q8IKZ6
Physiology
p.Thr484Ile
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
multidrug resistance protein 2
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
MuPKS
Coloration (psittacofulvin; feathers)
Coding,
SNP
Melopsittacus undulatus
budgerigar - (species) D
Domesticated
Association Mapping
Cooke TF; Fischer CR; Wu P ; et al. (2017)
Genetic Mapping and Biochemical Basis of Yellow Feather Pigmentation in Budgerigars.
GP00002121
PKS15
A0A218V6J0
Morphology
Melopsittacus undulatus
budgerigar - (species)
Melopsittacus undulatus
budgerigar - (species) D
MuPKS
Melopsittacus undulatus
budgerigar - (species)
Published - Accepted by Curator
Myosin heavy chain 9
Heat tolerance
Racing performance
Cis-regulatory,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Huson HJ; vonHoldt BM; Rimbault M ; et al. (2012)
Breed-specific ancestry studies and genome-wide association analysis highlight an association betwee[...]
GP00000684
MYH9
P35579
Physiology
Physiology
Several candidate SNPs - exact causing mutation(s) unknown
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Myosin heavy chain 9
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Na/K ATPase
Salt tolerance
Unknown,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species)
Intraspecific
Association Mapping
Jones FC; Chan YF; Schmutz J ; et al. (2012)
A genome-wide SNP genotyping array reveals patterns of global and repeated species-pair divergence i[...]
GP00001377
ATP1A1
P05023
Physiology
unknown
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Na/K ATPase
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
natriuretic peptide precursor type C (NPPC)
Body size (height)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Estrada K; Krawczak M; Schreiber S ; et al. (2009)
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide si[...]
GP00000719
Nppc
Q61839
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
natriuretic peptide precursor type C (NPPC)
Homo sapiens
human - (species)
Published - Accepted by Curator
natriuretic peptide receptor 3 (NPR3)
Body size (height)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Estrada K; Krawczak M; Schreiber S ; et al. (2009)
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide si[...]
1 Additional References
GP00000720
NPR3
Q8L746
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
natriuretic peptide receptor 3 (NPR3)
Homo sapiens
human - (species)
Published - Accepted by Curator
ndp (norrin)
Coloration (plumage)
Cis-regulatory,
Insertion
Corvus cornix
hooded crow - (species) D
Intraspecific
Association Mapping
Knief U; Bossu CM; Saino N ; et al. (2019)
Epistatic mutations under divergent selection govern phenotypic variation in the crow hybrid zone.
2 Additional References
GP00002148
Ndp
P48744
Morphology
2.25-kb LTR retrotransposon insertion reducing expression of the NDP gene and candidate gene LRP6 and a large LD haplotype in chr.18 also show a signal
Corvus corone corone
(subspecies)
Corvus cornix
hooded crow - (species) D
ndp (norrin)
Corvus cornix
hooded crow - (species)
Published - Accepted by Curator
ndp (norrin)
Coloration (plumage)
Coding,
SNP
N
Columba livia
rock pigeon - (species) D
Domesticated
Association Mapping
Vickrey AI; Bruders R; Kronenberg Z ; et al. (2018)
Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity i[...]
GP00002250
Ndp
P48744
Morphology
Start-codon change predicted to truncate the amino terminus of the NDP protein by 11 amino acids thereby disrupting the 24-amino acid signal peptide sequence N
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
ndp (norrin)
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
ndp (norrin)
Coloration (plumage)
Cis-regulatory,
Insertion
N
Columba livia
rock pigeon - (species) D
Columba guinea
speckled pigeon - (species) D
Intraspecific
Association Mapping
Vickrey AI; Bruders R; Kronenberg Z ; et al. (2018)
Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity i[...]
GP00002251
Ndp
P48744
Morphology
CNV driven by tandem repeats with one (bar) two (checker) or four (T-checker) copies per chromosome between approximative positions 1790000 and 1805600 N
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
Columba guinea
speckled pigeon - (species) D
ndp (norrin)
Columba livia
rock pigeon - (species)
Columba guinea
speckled pigeon - (species)
Published - Accepted by Curator
NEK9
Recombination rate
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001663
NEK9
F1MM88
Physiology
On chromosome 10. Associated SNP located 10 kb dowstream
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
NEK9
Bos taurus
cattle - (species)
Published - Accepted by Curator
Oca2
Coloration (eyes; skin, hair)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Eiberg H; Troelsen J; Nielsen M ; et al. (2008)
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory el[...]
5 Additional References
GP00000747
Oca2
Q62052
Morphology
Causative SNP in enhancer localized in intron of neighbor gene HERC2 : likely rs12913832 within HERC2 which influences on OCA2 expression in eye hair and skin pigmentation
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Oca2
Homo sapiens
human - (species)
Published - Accepted by Curator
Oca2
Coloration (skin)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Edwards M; Bigham A; Tan J ; et al. (2010)
Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: furth[...]
1 Additional References
GP00000748
Oca2
Q62052
Morphology
His615Arg
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Oca2
Homo sapiens
human - (species)
Published - Accepted by Curator
OPRM1
Coloration (skin)
Unknown,
Unknown
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Quillen EE; Bauchet M; Bigham AW ; et al. (2012)
OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...]
GP00001536
OPRM1
P35372
Morphology
C>T associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
OPRM1
Homo sapiens
human - (species)
Published - Accepted by Curator
OsSPL13
Grain size
Cis-regulatory,
Insertion
Oryza sativa Japonica Group
Japanese rice - (no rank) D
Domesticated
Association Mapping
Si L; Chen J; Huang X ; et al. (2016)
OsSPL13 controls grain size in cultivated rice.
GP00001572
SPL13
Q6Z461
Morphology
a CACTTC tandem repeat sequence in the 5' UTR is causing reduced expression
Oryza sativa
rice - (species)
Oryza sativa Japonica Group
Japanese rice - (no rank) D
OsSPL13
Oryza sativa Japonica Group
Japanese rice - (no rank)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
Insertion
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00000817
LPAR6
P43657
Morphology
at position 69 insertion of 4bp CATG - causes frameshift at codon 24 (PTC +29) N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001734
LPAR6
P43657
Morphology
2 deletions - one at position 172-175 delAACT and one at position 177 delG - cause frameshift at codon 58 (PTC +31) N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001735
LPAR6
P43657
Morphology
188A>T which causes D63V N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001736
LPAR6
P43657
Morphology
562A>T which causes I188F N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001737
LPAR6
P43657
Morphology
565G>A which causes E189K N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
PABPN1
Recombination rate
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001660
PABPN1
Q28165
Physiology
On chromosome 10. Associated SNP located dowstream of PABPN1
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
PABPN1
Bos taurus
cattle - (species)
Published - Accepted by Curator
pannier
Coloration (elytra)
Cis-regulatory,
Unknown
Harmonia axyridis
(species)
Intraspecific
Association Mapping
Ando T; Niimi T (2019)
Development and evolution of color patterns in ladybird beetles: A case study in Harmonia axyridis.
2 Additional References
GP00001705
pnr
P52168
Morphology
exact mutation(s) unknown
Harmonia axyridis
(species)
Harmonia axyridis
(species)
pannier
Harmonia axyridis
(species)
Published - Accepted by Curator
pannier
Coloration (elytra)
Cis-regulatory,
Unknown
Harmonia axyridis
(species)
Intraspecific
Association Mapping
Ando T; Niimi T (2019)
Development and evolution of color patterns in ladybird beetles: A case study in Harmonia axyridis.
2 Additional References
GP00001706
pnr
P52168
Morphology
exact mutation(s) unknown
Harmonia axyridis
(species)
Harmonia axyridis
(species)
pannier
Harmonia axyridis
(species)
Published - Accepted by Curator
pannier
Coloration (elytra)
Cis-regulatory,
Unknown
Harmonia axyridis
(species)
Intraspecific
Association Mapping
Ando T; Niimi T (2019)
Development and evolution of color patterns in ladybird beetles: A case study in Harmonia axyridis.
2 Additional References
GP00001707
pnr
P52168
Morphology
exact mutation(s) unknown
Harmonia axyridis
(species)
Harmonia axyridis
(species)
pannier
Harmonia axyridis
(species)
Published - Accepted by Curator
pastrel
Pathogen resistance (viruses)
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Association Mapping
Magwire MM; Fabian DK; Schweyen H ; et al. (2012)
Genome-wide association studies reveal a simple genetic basis of resistance to naturally coevolving [...]
GP00000854
pst
Q8IQ82
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
pastrel
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Patched1 (Ptc1)
Body size (height)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Lettre G (2011)
Recent progress in the study of the genetics of height.
GP00000855
ptch1
Q98864
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Patched1 (Ptc1)
Homo sapiens
human - (species)
Published - Accepted by Curator
Period (per)
Diapause
Unknown,
Unknown
Pieris napi
(species)
Intraspecific
Association Mapping
Pruisscher P; Nylin S; Wheat CW ; et al. (2021)
A region of the sex chromosome associated with population differences in diapause induction contains[...]
1 Additional References
GP00002427
per
P07663
Physiology
Multiple amino acid differences. Presence of five fixed SNPs between the N and S populations (one intergenic, two intronic and two exonic nonsynonymous substitutions).
Pieris napi
(species)
Pieris napi
(species)
Period (per)
Pieris napi
(species)
Published - Accepted by Curator
PHGPx
Xenobiotic resistance (gemcitabine ; female fertility)
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Association Mapping
King EG; Kislukhin G; Walters KN ; et al. (2014)
Using Drosophila melanogaster to identify chemotherapy toxicity genes.
GP00001405
PHGPx
Q8IRD4
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
PHGPx
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
PHO5
Low-phosphate adaptation (experimental evolution)
Gene Amplification,
Deletion
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Gresham D; Desai MM; Tucker CM ; et al. (2008)
The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments [...]
GP00000863
PHO5
P00635
Physiology
Deletion. Out of 8 lines; 2 distinct lines evolved structural variation at PHO5. (Interestingly; one was a deletion and another one was a gene amplification)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
PHO5
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PHO5
Low-phosphate adaptation (experimental evolution)
Gene Amplification,
Insertion
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Gresham D; Desai MM; Tucker CM ; et al. (2008)
The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments [...]
GP00000864
PHO5
P00635
Physiology
Gene duplication. Out of 8 lines; 2 distinct lines evolved structural variation at PHO5. (Interestingly; one was a deletion and another one was a gene amplification)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
PHO5
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Phosphate transporter PHO1
Root growth (allometry of lateral roots)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Rosas U; Cibrian-Jaramillo A; Ristova D ; et al. (2013)
Integration of responses within and across Arabidopsis natural accessions uncovers loci controlling [...]
GP00001284
PHO1
Q8S403
Morphology
histidine to tyrosine @position 8388425 in chromosome III
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Phosphate transporter PHO1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
PIK3CG
Hematopoiesis (mean blood platelet volume)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001611
PIK3CG
P48736
Physiology
C>G at the associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
PIK3CG
Homo sapiens
human - (species)
Published - Accepted by Curator
Plasma membrane ATPase 1
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001300
PMA1
P05030
Physiology
A>T (Phe > Ile) @ position 1831
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Plasma membrane ATPase 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Plasma membrane ATPase 1
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001301
PMA1
P05030
Physiology
T>G (Thr > Pro) @ position 2197
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Plasma membrane ATPase 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Plasma membrane ATPase 1
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001302
PMA1
P05030
Physiology
G>T (Ala > Asp) @ position 2204
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Plasma membrane ATPase 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
2 Additional References
GP00000900
PMA1
P05030
Physiology
Leu363Trp
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
2 Additional References
GP00000901
PMA1
P05030
Physiology
Ser234Cys
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000902
PMA1
P05030
Physiology
Val127Phe
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000903
PMA1
P05030
Physiology
Val157Phe
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000904
PMA1
P05030
Physiology
Gly294Val
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000905
PMA1
P05030
Physiology
Gly337Ser
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000906
PMA1
P05030
Physiology
Met530Ile
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000907
PMA1
P05030
Physiology
Pro535Thr
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000908
PMA1
P05030
Physiology
Iso564Thr
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000909
PMA1
P05030
Physiology
Ala732Val
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000910
PMA1
P05030
Physiology
Trp750Cys
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Clark LA; Wahl JM; Rees CA ; et al. (2006)
Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog.
GP00002072
Pmel
Q60696
Morphology
due to a short interspersed element (SINE) insertion at the intron 10/exon 11 boundary. The SINE segregates with the merle phenotype in multiple breeds (Collie, Border Collie, Australian Shepherd, Cardigan Welsh Corgi, Dachshund, and Great Dane) and is absent from dogs representing breeds that do not have merle patterning. All examined harlequin Great Danes harbored the insertion in either a heterozygous or homozygous state.
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
PMEL17
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Brunberg E; Andersson L; Cothran G ; et al. (2006)
A missense mutation in PMEL17 is associated with the Silver coat color in the horse.
4 Additional References
GP00002271
Pmel
Q60696
Morphology
g.73665304C>T p.R625C
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
PMEL17
Equus caballus
horse - (species)
Published - Accepted by Curator
POLLED locus
Horns absence
Cis-regulatory,
Complex Change
Bos taurus
cattle - (species) D
Bos grunniens
domestic yak - (species) D
Domesticated
Association Mapping
Medugorac I; Graf A; Grohs C ; et al. (2017)
Whole-genome analysis of introgressive hybridization and characterization of the bovine legacy of Mo[...]
GP00002030
Morphology
a complex 219-bp duplication–insertion (P219ID) beginning at 1;976;128 bp and a 7-bp deletion and 6-bp insertion (P1ID) located 621 bp upstream of this position. This rearrangement results in duplication of an 11-bp motif (5′-AAAGAAGCAAA-3′) that is entirely conserved among Bovidae and that is also duplicated in the 80-kb duplication responsible for Friesian polledness.
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Bos grunniens
domestic yak - (species) D
POLLED locus
Bos taurus
cattle - (species)
Bos grunniens
domestic yak - (species)
Published - Accepted by Curator
POLLED locus
Horns absence
Cis-regulatory,
Insertion
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Utsunomiya YT; Torrecilha RBP; Milanesi M ; et al. (2019)
Hornless Nellore cattle (Bos indicus) carrying a novel 110 kbp duplication variant of the polled loc[...]
GP00002031
Morphology
duplication of the region BTA1: 1;893;790–2;004;553 (about 110 kb)
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
POLLED locus
Bos taurus
cattle - (species)
Published - Accepted by Curator
pot-2
Telomere length
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Cook DE; Zdraljevic S; Tanny RE ; et al. (2016)
The Genetic Basis of Natural Variation in Caenorhabditis elegans Telomere Length.
GP00001317
pot-2
O45595
Physiology
Phenylalanine-to-isoleucine (F68I) N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
pot-2
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Potassium channel subfamily K
Fin morphology (skeleton; dorsal fin; caudal fin; tail; paired fin)
Coding,
SNP
N
Carassius auratus
goldfish - (species) D
Domesticated
Association Mapping
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002348
KCNK5
O95279
Morphology
Substitution of a hydrophobic amino acid (valine) with a hydrophilic amino acid (glutamic acid) appears to cause a critical alteration of channel gating. In total there are five amino acid substitutions or deletions in kcnk5bS in goldfish with the long-tail phenotype. N
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Potassium channel subfamily K
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
PPAR-alpha
Hypoxia response
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Simonson TS; Yang Y; Huff CD ; et al. (2010)
Genetic evidence for high-altitude adaptation in Tibet.
1 Additional References
GP00000917
PPARA
Q07869
Physiology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
PPAR-alpha
Homo sapiens
human - (species)
Published - Accepted by Curator
PPAR-delta
Body size (height)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
N'Diaye A; Chen GK; Palmer CD ; et al. (2011)
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of[...]
1 Additional References
GP00000918
PPARD
Q03181
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
PPAR-delta
Homo sapiens
human - (species)
Published - Accepted by Curator
PPAR-gamma
Fertility
Cis-regulatory,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Association Mapping
Hoedjes KM; Kostic H; Flatt T ; et al. (2023)
A Single Nucleotide Variant in the PPARγ-homolog Eip75B Affects Fecundity in Drosophila.
GP00002664
Eip75B
P17672
Physiology
This SNP is biallelic with the “T” variant being more common in the late-reproducing long-lived populations (average frequency: 0.84 “T” / 0.16 “G”) as compared to the early-reproducing populations (average frequency: 0.52 “T” / 0.48 “G”).
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
PPAR-gamma
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
PRKCD
Pathogen resistance
Unknown,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species)
Intraspecific
Association Mapping
Jones FC; Chan YF; Schmutz J ; et al. (2012)
A genome-wide SNP genotyping array reveals patterns of global and repeated species-pair divergence i[...]
GP00001381
PRKCD
Q05655
Physiology
unknown
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
PRKCD
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
Prolactin receptor
Feather (slow-feathering ; delay)
Coding,
Deletion
Meleagris gallopavo mexicana
(subspecies) D
Domesticated
Association Mapping
Derks MFL; Herrero-Medrano JM; Crooijmans RPMA ; et al. (2018)
Early and late feathering in turkey and chicken: same gene but different mutations.
GP00002281
PRLR
P16471
Morphology
g.9426018_9426022delTTGGT p.Glu726Aspfs*7 truncated PRLR protein that lacks 98 C-terminal AA ; this truncated PRLR protein is strikingly similar to the protein encoded by the slow feathering K allele in chicken
Meleagris gallopavo mexicana
(subspecies)
Meleagris gallopavo mexicana
(subspecies) D
Prolactin receptor
Meleagris gallopavo mexicana
(subspecies)
Published - Accepted by Curator
Prolactin releasing hormone receptor (Prlhr/GPR10)
Body size (weight)
Cis-regulatory,
Unknown
Mus musculus
house mouse - (species)
Domesticated
Association Mapping
Chan YF; Jones FC; McConnell E ; et al. (2012)
Parallel selection mapping using artificially selected mice reveals body weight control loci.
GP00000928
PRLHR
P49683
Physiology
unknown
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
Prolactin releasing hormone receptor (Prlhr/GPR10)
Mus musculus
house mouse - (species)
Published - Accepted by Curator
prolyl endopeptidase (PREP)
Coloration (scales)
Cis-regulatory,
Unknown
Uta stansburiana
(species) D
Intraspecific
Association Mapping
Corl A; Bi K; Luke C ; et al. (2018)
The Genetic Basis of Adaptation following Plastic Changes in Coloration in a Novel Environment.
GP00002108
PREP
P48147
Morphology
no coding mutation associated with the phenotype - 2 differentiated SNPs in introns and one is a synonymous change.
Uta stansburiana
(species)
Uta stansburiana
(species) D
prolyl endopeptidase (PREP)
Uta stansburiana
(species)
Published - Accepted by Curator
protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A)
Coloration (scales)
Cis-regulatory,
Unknown
Uta stansburiana
(species) D
Intraspecific
Association Mapping
Corl A; Bi K; Luke C ; et al. (2018)
The Genetic Basis of Adaptation following Plastic Changes in Coloration in a Novel Environment.
GP00002109
Prkar1a
Q9DBC7
Morphology
no coding mutation associated with the phenotype - one differentiated SNP in an intron in the 5' UTR
Uta stansburiana
(species)
Uta stansburiana
(species) D
protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A)
Uta stansburiana
(species)
Published - Accepted by Curator
protein phosphatase
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001534
PF3D7_1012700
Q8IJR8
Physiology
p.Val1157Leu
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
protein phosphatase
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
PSMD13
Hematopoiesis (mean blood platelet volume)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001615
PSMD13
Q9UNM6
Physiology
A>G at the associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
PSMD13
Homo sapiens
human - (species)
Published - Accepted by Curator
PTPN1
High-altitude adaptation
Coding,
SNP
Locusta migratoria
migratory locust - (species) D
Intraspecific
Association Mapping
Ding D; Liu G; Hou L ; et al. (2018)
Genetic variation in PTPN1 contributes to metabolic adaptation to high-altitude hypoxia in Tibetan m[...]
GP00002668
P18031NULL
Physiology
one nonsynonymous mutation (c.1046A>T) in PTPN1 in Tibetan locusts which encodes the amino acid substitution p.Asn349Ile at the proline (Pro)-rich domain of PTP1B.
Locusta migratoria
migratory locust - (species)
Locusta migratoria
migratory locust - (species) D
PTPN1
Locusta migratoria
migratory locust - (species)
Published - Accepted by Curator
PVX_084940
Xenobiotic resistance (multiresistance to antimalarial drugs)
Unknown,
Unknown
Plasmodium vivax
malaria parasite P. vivax - (species)
Intraspecific
Association Mapping
Pearson RD; Amato R; Auburn S ; et al. (2016)
Genomic analysis of local variation and recent evolution in Plasmodium vivax.
GP00001487
PVX_084940
A5K0T0
Physiology
unknown
Plasmodium vivax
malaria parasite P. vivax - (species)
Plasmodium vivax
malaria parasite P. vivax - (species)
PVX_084940
Plasmodium vivax
malaria parasite P. vivax - (species)
Published - Accepted by Curator
PVX_101445
Xenobiotic resistance (chloroquine)
Gene Amplification,
Insertion
Plasmodium vivax
malaria parasite P. vivax - (species) D
Intraspecific
Association Mapping
Pearson RD; Amato R; Auburn S ; et al. (2016)
Genomic analysis of local variation and recent evolution in Plasmodium vivax.
GP00001483
PVX_101445
A5K913
Physiology
3 kb duplication on chromosome 14 that includes PVX_101445
Plasmodium vivax
malaria parasite P. vivax - (species)
Plasmodium vivax
malaria parasite P. vivax - (species) D
PVX_101445
Plasmodium vivax
malaria parasite P. vivax - (species)
Published - Accepted by Curator
R-spondin-2 (RSPO2)
Hair length (moustache / eyebrows)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Cadieu E; Neff MW; Quignon P ; et al. (2009)
Coat variation in the domestic dog is governed by variants in three genes.
GP00000945
Rspo2
Q8BFU0
Morphology
a 167bp insertion within the 3'UTR at position which leads to a threefold increase in transcription of RSPO2 in muzzle skin of dogs with furnishings
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
R-spondin-2 (RSPO2)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
RALY (hnRNP associated with lethal yellow)
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus
gray wolf - (species) D
Intraspecific
Association Mapping
Dreger DL; Parker HG; Ostrander EA ; et al. (2013 May-Jun)
Identification of a mutation that is associated with the saddle tan and black-and-tan phenotypes in [...]
GP00001366
RALY
Q9UKM9
Morphology
16 bpduplication g.1875_1890dupCCCCAGGTCAGAGTTT in intron
Canis lupus
gray wolf - (species)
Canis lupus
gray wolf - (species) D
RALY (hnRNP associated with lethal yellow)
Canis lupus
gray wolf - (species)
Published - Accepted by Curator
RAS1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000952
RAS2
P01120
Physiology
Glu>Ala (A>C mutation)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RAS1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RAS2
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000954
RAS2
P01120
Physiology
Gly>Ser (C>T mutation)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RAS2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RAS2
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000955
RAS2
P01120
Physiology
Glu>Gln (C>G mutation)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RAS2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
REC114
Recombination rate
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001661
REC114
Q7Z4M0
Physiology
On chromosome 10. Associated SNP located dowstream of the gene
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
REC114
Bos taurus
cattle - (species)
Published - Accepted by Curator
RIM15
Low-glucose adaptation (experimental evolution)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00000989
RIM15
P43565
Physiology
1bp deletion resulting in premature stop codon N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RIM15
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RNASE4
High-altitude adaptation (enhanced angiogenesis)
2 Mutations:
Coding
SNP
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species) D
Rhinopithecus bieti
black snub-nosed monkey - (species) D
Interspecific
Association Mapping
Yu L; Wang GD; Ruan J ; et al. (2016)
Genomic analysis of snub-nosed monkeys (Rhinopithecus) identifies genes and processes related to hig[...]
GP00001505
RNASE4
P34096
Physiology
2 mutations
Rhinopithecus avunculus
Tonkin snub-nosed monkey - (species)
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species) D
Rhinopithecus bieti
black snub-nosed monkey - (species) D
RNASE4
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species)
Rhinopithecus bieti
black snub-nosed monkey - (species)
Published - Accepted by Curator
RNASE4 [likely pseudo-replicate of other RNASE4 entry by introgression]
High-altitude adaptation (enhanced angiogenesis)
2 Mutations:
Coding
SNP
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
Interspecific
Association Mapping
Yu L; Wang GD; Ruan J ; et al. (2016)
Genomic analysis of snub-nosed monkeys (Rhinopithecus) identifies genes and processes related to hig[...]
GP00001506
RNASE4
P34096
Physiology
2 mutations
Rhinopithecus brelichi
Gray snub-nosed monkey - (species)
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
RNASE4 [likely pseudo-replicate of other RNASE4 entry by introgression]
Rhinopithecus roxellana
golden snub-nosed monkey - (species)
Published - Accepted by Curator
RNF11
Body size (dwarfism)
Cis-regulatory,
Deletion
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Sartelet A; Druet T; Michaux C ; et al. (2012)
A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory[...]
GP00002275
RNF11
Q9Y3C5
Morphology
g.95601696A>G c.124-2A>G affecting splicing site
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
RNF11
Bos taurus
cattle - (species)
Published - Accepted by Curator
RnrS
Xenobiotic resistance (gemcitabine ; female fertility)
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Association Mapping
King EG; Kislukhin G; Walters KN ; et al. (2014)
Using Drosophila melanogaster to identify chemotherapy toxicity genes.
GP00001404
RnrS
P48592
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
RnrS
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Root System Architecture 1
Root growth (allometry of lateral roots)
Cis-regulatory,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Rosas U; Cibrian-Jaramillo A; Ristova D ; et al. (2013)
Integration of responses within and across Arabidopsis natural accessions uncovers loci controlling [...]
GP00001285
Root System Architecture 1
F4JL94
Morphology
348bp upstream of the 5'UTR
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Root System Architecture 1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RORB
gait (saltatorial locomotion)
Coding,
SNP
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Association Mapping
Carneiro M; Vieillard J; Andrade P ; et al. (2021)
A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits.
GP00002343
RORB
F1PET8
Behavior
a change from GT to AT in the 5’ donor site of intron 9 (chr1: 61,103,503bp). The mutation disrupts the normal splicing of RORB.
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
RORB
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
RREB1
Body fat distribution (visceral)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001555
RREB1
Q92766
Physiology
C>G in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
RREB1
Homo sapiens
human - (species)
Published - Accepted by Curator
RTA1
Xenobiotic resistance (citrinin)
Cis-regulatory,
Unknown
Saccharomyces paradoxus
(species) D
Domesticated
Association Mapping
Naranjo S; Smith JD; Artieri CG ; et al. (2015)
Dissecting the Genetic Basis of a Complex cis-Regulatory Adaptation.
GP00001312
RTA1
P53047
Physiology
unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces paradoxus
(species) D
RTA1
Saccharomyces paradoxus
(species)
Published - Accepted by Curator
sage
Silk yield
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xia Q; Guo Y; Zhang Z ; et al. (2009)
Complete resequencing of 40 genomes reveals domestication events and genes in silkworm (Bombyx).
GP00002410
sage
Q9VHG3
Physiology
Increased expression in high yield strains. The sage gene encodes a transcription factor that activates glue genes in salivary glands of Drosophila melanogaster.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
sage
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
SAP-2
Xenobiotic resistance (insecticide; pyrethroid)
Cis-regulatory,
Unknown
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Association Mapping
Ingham VA; Anthousi A; Douris V ; et al. (2020)
A sensory appendage protein protects malaria vectors from pyrethroids.
GP00002432
SAP-2
Q6H8Z3
Physiology
The gene is highly overexpressed in the appendages of pyrethroid-resistant mosquitoes and its expression is further induced by insecticide exposure. Silencing of SAP2 almost completely restored susceptibility to the pyrethroid deltamethrin and also significantly increased the susceptibility to the other two pyrethroids (permethrin and alpha-cypermethrin).
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
SAP-2
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
SBNO1
Head size
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Taal HR; Pourcain BS; Thiering E ; et al. (2012)
Common variants at 12q15 and 12q24 are associated with infant head circumference.
GP00001023
SBNO1
A3KN83
Morphology
Ser729Asn
Homo sapiens
human - (species)
Homo sapiens
human - (species)
SBNO1
Homo sapiens
human - (species)
Published - Accepted by Curator
SGK3
Hair (hypotrichosis)
Coding,
Insertion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Hytönen MK; Lohi H (2019)
A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate g[...]
1 Additional References
GP00002263
Sgk3
Q9ERE3
Morphology
c.137_138insT p.Glu47GlyfsTer3 N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
SGK3
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
SGLT1
Starch processing
Coding,
Unknown
Canis lupus familiaris
dog - (subspecies)
Domesticated
Association Mapping
Axelsson E; Ratnakumar A; Arendt ML ; et al. (2013)
The genomic signature of dog domestication reveals adaptation to a starch-rich diet.
GP00001037
Slc5a1
Q9QXI6
Physiology
unknown
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies)
SGLT1
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Shattering1 - OsSh1
Seed shattering
Gene Loss,
Deletion
N
Oryza glaberrima
African rice - (species) D
Domesticated
Association Mapping
Wang M; Yu Y; Haberer G ; et al. (2014)
The genome sequence of African rice (Oryza glaberrima) and evidence for independent domestication.
GP00001038
YAB2
Q10FZ7
Physiology
45kb deletion resulting in complete removal of OsSh1 in O. glaberrima; resulting in seed abscission phenotype N
Oryza barthii
(species)
Oryza glaberrima
African rice - (species) D
Shattering1 - OsSh1
Oryza glaberrima
African rice - (species)
Published - Accepted by Curator
Shattering1 - OsSh1
Seed shattering
Unknown,
Insertion
Oryza sativa
rice - (species) D
Domesticated
Association Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
2 Additional References
GP00001039
YAB2
Q10FZ7
Physiology
>4kb insertion in intron (unclear)
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Shattering1 - OsSh1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Shattering1 - ZmSh1-1
Seed shattering
Coding,
Complex Change
Zea mays
(species)
Domesticated
Association Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001043
YAB2
Q10FZ7
Physiology
complex structural variations
Zea mays
(species)
Zea mays
(species)
Shattering1 - ZmSh1-1
Zea mays
(species)
Published - Accepted by Curator
Shattering1 - ZmSh1-5.1 + ZmSh1-5.2
Seed shattering
Coding,
Unknown
Zea mays
(species)
Domesticated
Association Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001044
YAB2
Q10FZ7
Physiology
various structural variations
Zea mays
(species)
Zea mays
(species)
Shattering1 - ZmSh1-5.1 + ZmSh1-5.2
Zea mays
(species)
Published - Accepted by Curator
shattering4 - sh4
Seed shattering
Cis-regulatory,
Unknown
Oryza glaberrima
African rice - (species) D
Domesticated
Association Mapping
Wang M; Yu Y; Haberer G ; et al. (2014)
The genome sequence of African rice (Oryza glaberrima) and evidence for independent domestication.
GP00001045
sh4
Q1PIH9
Physiology
several candidate mutations: ten SNPs and five small insertion/deletions leading to reduced expression
Oryza barthii
(species)
Oryza glaberrima
African rice - (species) D
shattering4 - sh4
Oryza glaberrima
African rice - (species)
Published - Accepted by Curator
SLC24A
Coloration (eyes)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Mack M; Kowalski E; Grahn R ; et al. (2017)
Two Variants in SLC24A5 Are Associated with "Tiger-Eye" Iris Pigmentation in Puerto Rican Paso Fino [...]
GP00002276
Slc24a5
Q8C261
Morphology
628 bp deletion encompassing all of exon 7 of SLC24A5 (c.875-340_1081+82del) N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC24A
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC24A
Coloration (eyes)
Coding,
SNP
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Mack M; Kowalski E; Grahn R ; et al. (2017)
Two Variants in SLC24A5 Are Associated with "Tiger-Eye" Iris Pigmentation in Puerto Rican Paso Fino [...]
GP00002277
Slc24a5
Q8C261
Morphology
c.272A>T p.Phe91Tyr N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC24A
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC24A5 (NCKX5)
Coloration (eyes; skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Lamason RL; Mohideen MA; Mest JR ; et al. (2005)
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans.
5 Additional References
GP00001056
Slc24a5
Q8C261
Morphology
Ala111Thr
Homo sapiens
human - (species)
Homo sapiens
human - (species)
SLC24A5 (NCKX5)
Homo sapiens
human - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (eyes; hair; skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Graf J; Hodgson R; van Daal A (2005)
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation varia[...]
3 Additional References
GP00001061
SLC45A2
Q9UMX9
Morphology
Phe374Leu
Homo sapiens
human - (species)
Homo sapiens
human - (species)
SLC45A2=MATP
Homo sapiens
human - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Panthera tigris
tiger - (species) D
Intraspecific
Association Mapping
Xu X; Dong GX; Hu XS ; et al. (2013)
The genetic basis of white tigers.
GP00001063
SLC45A2
Q9UMX9
Morphology
A477V
Panthera tigris
tiger - (species)
Panthera tigris
tiger - (species) D
SLC45A2=MATP
Panthera tigris
tiger - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00002294
SLC45A2
Q9UMX9
Morphology
c.1039C>A p.L347M N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLC45A2=MATP
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00002295
SLC45A2
Q9UMX9
Morphology
c.830A>G p.Y277C N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLC45A2=MATP
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SLY41
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001712
SLY41
P22215
Physiology
Trp253Leu (G>T at position 893332 according to Table 1)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
SLY41
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
SMAD family member 2 (SMAD2)
Body size (weight)
Cis-regulatory,
Deletion
Homo sapiens
human - (species) D
Domesticated
Association Mapping
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001477
SMAD2
E2RP23
Morphology
9.9 kb deletion 24-kb dowstream from coding region
Canis lupus
gray wolf - (species)
Homo sapiens
human - (species) D
SMAD family member 2 (SMAD2)
Homo sapiens
human - (species)
Published - Accepted by Curator
SMC3
Recombination rate (female)
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001666
SMC3
O97594
Physiology
On chromosome 26. Associated SNP located upstream
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
SMC3
Bos taurus
cattle - (species)
Published - Accepted by Curator
SOD3
Oxidative stress resistance
Blood pressure
Unknown,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species)
Intraspecific
Association Mapping
Jones FC; Chan YF; Schmutz J ; et al. (2012)
A genome-wide SNP genotyping array reveals patterns of global and repeated species-pair divergence i[...]
GP00001380
SOD3
P08294
Physiology
Physiology
unknown
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
SOD3
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
Sox5/6
Coloration (wing; mimicry)
Cis-regulatory,
Unknown
Hypolimnas misippus
(species)
Intraspecific
Association Mapping
VanKuren NW; Massardo D; Nallu S ; et al. (2019)
Butterfly Mimicry Polymorphisms Highlight Phylogenetic Limits of Gene Reuse in the Evolution of Dive[...]
GP00002429
Morphology
A 10 kb intergenic region located 48kb upstream of the Sox5/6 gene is strongly associated with the wing phenotype. This cis-regulatory change may also affect another neighboring gene, such as pink.
Hypolimnas misippus
(species)
Hypolimnas misippus
(species)
Sox5/6
Hypolimnas misippus
(species)
Published - Accepted by Curator
SPR
Coloration (ventral scales)
Cis-regulatory,
Unknown
Podarcis muralis
Common wall lizard - (species)
Intraspecific
Association Mapping
Andrade P; Pinho C; Pérez I de Lanuza G ; et al. (2019)
Regulatory changes in pterin and carotenoid genes underlie balanced color polymorphisms in the wall [...]
GP00002119
Spr
Q64105
Morphology
Podarcis muralis
Common wall lizard - (species)
Podarcis muralis
Common wall lizard - (species)
SPR
Podarcis muralis
Common wall lizard - (species)
Published - Accepted by Curator
stanniocalcin 2 (STC2)
Body size (weight)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Domesticated
Association Mapping
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001478
STC2
O76061
Morphology
T>A 20-kb downstream from coding region
Canis lupus
gray wolf - (species)
Homo sapiens
human - (species) D
stanniocalcin 2 (STC2)
Homo sapiens
human - (species)
Published - Accepted by Curator
SUL1
Low-sulfate adaptation (experimental evolution)
Gene Amplification,
Complex Change
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Gresham D; Desai MM; Tucker CM ; et al. (2008)
The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments [...]
1 Additional References
GP00001083
SUL1
P38359
Physiology
out of 16 lines; 15 distinct SUL1 amplification alleles evolved. Copy number ranged from 2 to 16 ; Amplicon size ranged from 2.5kb to 40kb
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
SUL1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
sulfate transporter 1;1
Xenobiotic resistance (soil contamination; serpentine)
Unknown,
Unknown
Arabidopsis arenosa
(species) D
Intraspecific
Association Mapping
Arnold BJ; Lahner B; DaCosta JM ; et al. (2016)
Borrowed alleles and convergence in serpentine adaptation.
GP00001429
SULTR1;1
Q9SAY1
Physiology
unknown
Arabidopsis arenosa
(species)
Arabidopsis arenosa
(species) D
sulfate transporter 1;1
Arabidopsis arenosa
(species)
Published - Accepted by Curator
syntaxin-17
Coloration (hair ; graying with age)
Cis-regulatory,
Insertion
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Rosengren Pielberg G; Golovko A; Sundström E ; et al. (2008)
A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the[...]
2 Additional References
GP00002272
STX17
P56962
Morphology
4.6-kb duplication in intron 6 of STX17 ; in transgenic zebrafish a construct containing two copies of the duplicated sequence acts as a strong enhancer in neural crest cells and has subsequent melanophore-specific activity whereas a single copy of the duplicated sequence acts as a weak enhancer - consistent with the phenotypic manifestation of the mutation in horses
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
syntaxin-17
Equus caballus
horse - (species)
Published - Accepted by Curator
syntaxin1a
Eusociality
Cis-regulatory,
Unknown
Lasioglossum albipes
(species) D
Intraspecific
Association Mapping
Kocher SD; Mallarino R; Rubin BER ; et al. (2018)
The genetic basis of a social polymorphism in halictid bees.
GP00002624
Syx1A
Q24547
Behavior
Increased expression in eusocial individuals compared to solitary individuals
Lasioglossum albipes
(species)
Lasioglossum albipes
(species) D
syntaxin1a
Lasioglossum albipes
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance
Gene Amplification,
Complex Change
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001091
TAC1
A7IZW4
Physiology
Copy number Variant
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance
Coding,
Deletion
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001092
TAC1
A7IZW4
Physiology
1a.a. deletion
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance
Coding,
Deletion
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001093
TAC1
A7IZW4
Physiology
7a.a. deletion
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance (drug)
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001094
TAC1
A7IZW4
Physiology
G980E
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance (drug)
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001095
TAC1
A7IZW4
Physiology
A736V
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance (drug)
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001096
TAC1
A7IZW4
Physiology
T225A
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAF5
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001710
TAF5
P38129
Physiology
Gly693Val (G>T at position 616441 according to Table 1) - GGN to GTN position 616441
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
TAF5
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
tan
Coloration (thorax; abdomen; trident)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
Bastide H; Betancourt A; Nolte V ; et al. (2013)
A genome-wide, fine-scale map of natural pigmentation variation in Drosophila melanogaster.
3 Additional References
GP00002622
t
Q9W369
Morphology
exact causing mutation(s) unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
tan
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
TBX15
Ear shape
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Adhikari K; Reales G; Smith AJ ; et al. (2015)
A genome-wide association study identifies multiple loci for variation in human ear morphology.
GP00001113
TBX15
Q96SF7
Morphology
Tbx15 enhancer variation including rs17023457 T or C alleles that affect CART1 binding on a conserved site
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TBX15
Homo sapiens
human - (species)
Published - Accepted by Curator
teosinte branched 1 (tb1) = IntC
Plant architecture
Inflorescence architecture
Coding,
Unknown
Hordeum vulgare
(species)
Domesticated
Association Mapping
Ramsay L; Comadran J; Druka A ; et al. (2011)
INTERMEDIUM-C, a modifier of lateral spikelet fertility in barley, is an ortholog of the maize domes[...]
GP00001117
TB1
Q93WI2
Morphology
Morphology
Large haplotypes; unknown
Hordeum vulgare
(species)
Hordeum vulgare
(species)
teosinte branched 1 (tb1) = IntC
Hordeum vulgare
(species)
Published - Accepted by Curator
tetraspanin
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
SNP
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Association Mapping
Jin L; Wang J; Guan F ; et al. (2018)
Dominant point mutation in a tetraspanin gene associated with field-evolved resistance of cotton bol[...]
GP00002468
Tsp2A
O46101
Physiology
L31S due to a nucleotide substitution T92C. CRISPR knockout of the tetraspanin gene restored susceptibility to a resistant strain whereas inserting the mutation conferred 125-fold resistance in a susceptible strain.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
tetraspanin
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Thyroid stimulating hormone receptor
Metabolism
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Rubin CJ; Zody MC; Eriksson J ; et al. (2010)
Whole-genome resequencing reveals loci under selection during chicken domestication.
1 Additional References
GP00001127
TSHR
P16473
Physiology
Gly558Arg
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
Thyroid stimulating hormone receptor
Gallus gallus
chicken - (species)
Published - Accepted by Curator
TLR6-TLR1-TLR10 cluster
Immune response
Unknown,
Complex Change
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Laayouni H; Oosting M; Luisi P ; et al. (2014)
Convergent evolution in European and Rroma populations reveals pressure exerted by plague on Toll-li[...]
1 Additional References
GP00001130
TLR1
Q15399
Physiology
Several Complex Haplotypes under positive selection - evidence on Adaptive Introgression from Neanderthal (2 haplotypes) and Denisova (1 haplotype)
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TLR6-TLR1-TLR10 cluster
Homo sapiens
human - (species)
Published - Accepted by Curator
TMEM154
Pathogen resistance (lentivirus)
Coding,
SNP
Ovis aries
sheep - (species) D
Intraspecific
Association Mapping
Heaton MP; Clawson ML; Chitko-Mckown CG ; et al. (2012)
Reduced lentivirus susceptibility in sheep with TMEM154 mutations.
GP00002242
TMEM154
Q6P9G4
Physiology
Mutation at conserved position associated to resistance in homozygous state
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
TMEM154
Ovis aries
sheep - (species)
Published - Accepted by Curator
TMPRSS6
Hematopoiesis (mean blood corpuscular hemoglobin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001618
TMPRSS6
Q8IU80
Physiology
T>C at the associated SNP. Another SNP variant in strong LD p.V736A previously reported to influence iron homeostasis
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TMPRSS6
Homo sapiens
human - (species)
Published - Accepted by Curator
TPCN2
Coloration (coat)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2008)
Two newly identified genetic determinants of pigmentation in Europeans.
GP00001131
TPCN2
Q8NHX9
Morphology
Met484Leu and/or Gly734Gln
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TPCN2
Homo sapiens
human - (species)
Published - Accepted by Curator
TPD3
Cell size
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001499
TPD3
P31383
Physiology
C>T p.Q557* heterozygous nonsense mutation which may cause the larger cell size N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
TPD3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
trehalase
Coloration (wing; seasonal)
Cis-regulatory,
Unknown
Junonia coenia
buckeye - (species) D
Experimental Evolution
Association Mapping
van der Burg KRL; Lewis JJ; Brack BJ ; et al. (2020)
Genomic architecture of a genetically assimilated seasonal color pattern.
GP00002421
Treh
Q9W2M2
Morphology
Increased expression of the trehalase gene in the Red line. No variation in coding region. Strong association with cis-regulatory SNP.
Junonia coenia
buckeye - (species)
Junonia coenia
buckeye - (species) D
trehalase
Junonia coenia
buckeye - (species)
Published - Accepted by Curator
Tret1-like
Diapause
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Tong X; Han MJ; Lu K ; et al. (2022)
High-resolution silkworm pan-genome provides genetic insights into artificial selection and ecologic[...]
GP00002402
Tret1-1
A1Z8N1
Physiology
The expression level of BmTret1-like in homozygotes (pnd/pnd) is significantly lower (p < 0.01, t test) than that in heterozygotes (pnd/+). CRISPR BmTret1-like knockout lines generate non-diapause eggs. A 747 bp deletion is present in the 3′-untranslated region (3′-UTR) of BmTret1-like in pnd homozygotes
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Tret1-like
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
TRIB2
Body fat distribution (pericardial)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001559
TRIB2
Q92519
Physiology
A>G in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TRIB2
Homo sapiens
human - (species)
Published - Accepted by Curator
Trichohyalin
Hair type (straight)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Medland SE; Nyholt DR; Painter JN ; et al. (2009)
Common variants in the trichohyalin gene are associated with straight hair in Europeans.
GP00001134
TCHH
Q07283
Morphology
Not identified
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Trichohyalin
Homo sapiens
human - (species)
Published - Accepted by Curator
TRIP11 (=GMAP-210)
Body size (height)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Lettre G (2011)
Recent progress in the study of the genetics of height.
GP00001138
TRIP11
Q15643
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TRIP11 (=GMAP-210)
Homo sapiens
human - (species)
Published - Accepted by Curator
TRPV4
Ear size (drop)
Coding,
SNP
Felis catus
domestic cat - (species) D
Domesticated
Association Mapping
Gandolfi B; Alamri S; Darby WG ; et al. (2016)
A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats.
1 Additional References
GP00002279
TRPV4
Q9HBA0
Morphology
c.1024G>T p.V342F
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
TRPV4
Felis catus
domestic cat - (species)
Published - Accepted by Curator
two pore channel
Xenobiotic resistance (soil contamination; serpentine)
Unknown,
Unknown
Arabidopsis arenosa
(species) D
Intraspecific
Association Mapping
Arnold BJ; Lahner B; DaCosta JM ; et al. (2016)
Borrowed alleles and convergence in serpentine adaptation.
GP00001433
TPC1
Q94KI8
Physiology
unknown
Arabidopsis arenosa
(species)
Arabidopsis arenosa
(species) D
two pore channel
Arabidopsis arenosa
(species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (eyes; hair; skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
2 Additional References
GP00001144
Tyr
P11344
Morphology
R402Q
Homo sapiens
human - (species)
Homo sapiens
human - (species)
tyrosinase (TYR)
Homo sapiens
human - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Panthera leo
lion - (species) D
Intraspecific
Association Mapping
Cho YS; Hu L; Hou H ; et al. (2013)
The tiger genome and comparative analysis with lion and snow leopard genomes.
GP00001346
Tyr
P11344
Morphology
c.260G>A p.Arg87Gln
Panthera leo
lion - (species)
Panthera leo
lion - (species) D
tyrosinase (TYR)
Panthera leo
lion - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (skin; eye; freckles)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Wilde S; Timpson A; Kirsanow K ; et al. (2014)
Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the l[...]
GP00001348
Tyr
P11344
Morphology
c. C>A p.Ser192Tyr
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
tyrosinase (TYR)
Homo sapiens
human - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Kenny EE; Timpson NJ; Sikora M ; et al. (2012)
Melanesian blond hair is caused by an amino acid change in TYRP1.
GP00001155
Tyrp1
P07147
Morphology
R93C
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
tyrosinase-related protein 1 (TYRP1)
Homo sapiens
human - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (eyes; hair; skin)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Frudakis T; Thomas M; Gaskin Z ; et al. (2003)
Sequences associated with human iris pigmentation.
1 Additional References
GP00001157
Tyrp1
P07147
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
tyrosinase-related protein 1 (TYRP1)
Homo sapiens
human - (species)
Published - Accepted by Curator
UBE2E2
Body fat distribution (visceral/subcutaneous ratio)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001553
UBE2E2
Q96LR5
Physiology
T>C in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
UBE2E2
Homo sapiens
human - (species)
Published - Accepted by Curator
Ubiquitin conjugating enzyme E2H (Ubc-E2H)
Pathogen resistance (Drosophila C virus & cricket paralysis virus)
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Experimental Evolution
Association Mapping
Martins NE; Faria VG; Nolte V ; et al. (2014)
Host adaptation to viruses relies on few genes with different cross-resistance properties.
GP00001480
UbcE2H
Q7JW03
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Ubiquitin conjugating enzyme E2H (Ubc-E2H)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Ugt86Dd
Xenobiotic resistance (nicotine ; larval stage)
Coding,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
Marriage TN; King EG; Long AD ; et al. (2014)
Fine-mapping nicotine resistance loci in Drosophila using a multiparent advanced generation inter-cr[...]
1 Additional References
GP00001406
Ugt86Dd
Q9VGT8
Physiology
22-bp frameshift deletion in Ugt86Dd - CRISPR-induced deletions in Ugt86Dd lead to a large reduction in resistance N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Ugt86Dd
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 1
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001290
VTC1
P40046
Physiology
G>T (Asp > Tyr) @ position 289
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 1
Metal tolerance (copper)
Coding,
Indel
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001291
VTC1
P40046
Physiology
Pro > His+frameshift @ position 13 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 1
Metal tolerance (copper)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001292
VTC1
P40046
Physiology
C>A (Ser > Stop) @ position 104 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 4
Metal tolerance (copper)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001293
VTC4
P47075
Physiology
C>T (Trp > Stop) @ position 800 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 4
Metal tolerance (copper)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001294
VTC4
P47075
Physiology
C>A (Glu > Stop) @ position 226 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 4
Metal tolerance (copper)
Coding,
Indel
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001295
VTC4
P47075
Physiology
Phe > Ser+frameshift @ position 380 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 4
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001296
VTC4
P47075
Physiology
A>G (Tyr > His) @ position 1075
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 4
Metal tolerance (copper)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001297
VTC4
P47075
Physiology
C>T (Trp > Stop) @ position 1320 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 4
Metal tolerance (copper)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001298
VTC4
P47075
Physiology
T>A (Arg > Stop) @ position 757 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 4
Metal tolerance (copper)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001299
VTC4
P47075
Physiology
C>A (Glu > Stop) @ position 1153 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
VGLL3 (vestigial-like family member 3 gene )
Age of sexual maturity
Unknown,
Unknown
Salmo salar
Atlantic salmon - (species)
Intraspecific
Association Mapping
Barson NJ; Aykanat T; Hindar K ; et al. (2015)
Sex-dependent dominance at a single locus maintains variation in age at maturity in salmon.
1 Additional References
GP00001167
VGLL3
A8MV65
Physiology
candidate amino-acid substitutions
Salmo salar
Atlantic salmon - (species)
Salmo salar
Atlantic salmon - (species)
VGLL3 (vestigial-like family member 3 gene )
Salmo salar
Atlantic salmon - (species)
Published - Accepted by Curator
VPS13A
Latitudinal adaptation
Coding,
SNP
Sus scrofa
pig - (species) D
Domesticated
Association Mapping
Ai H; Fang X; Yang B ; et al. (2015)
Adaptation and possible ancient interspecies introgression in pigs identified by whole-genome sequen[...]
GP00001571
VPS13A
F1SIL5
Physiology
two nonsynonymous substitutions V>G and F>Y - whether both or only one affects the phenotype is unknown
Sus scrofa
pig - (species)
Sus scrofa
pig - (species) D
VPS13A
Sus scrofa
pig - (species)
Published - Accepted by Curator
WDR66
Hematopoiesis (mean blood platelet volume)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001604
WDR66
Q8TBY9
Physiology
A>G at the associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
WDR66
Homo sapiens
human - (species)
Published - Accepted by Curator
Wnt receptor
Fin morphology (skeleton; dorsal fin)
Cis-regulatory,
Unknown
Carassius auratus
goldfish - (species) D
Domesticated
Association Mapping
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002347
Lrp6
O88572
Morphology
Lrp6 gene expression is reduced in goldfish with the dorsal fin loss phenotype. Only four amino acid substitutions in the coding region and all of them are conserved or semi-conserved in zebrafish or medaka lrp6 orthologs. There is a 313-bp deletion in intron 21 of lrp6S in goldfish with the dorsal fin loss phenotype. This intronic deletion may affect induction and proper production of lrp6S mRNA at embryonic stages.
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Wnt receptor
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
Wnt1
Coloration (larval color pattern)
Cis-regulatory,
Deletion
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Tong X; Han MJ; Lu K ; et al. (2022)
High-resolution silkworm pan-genome provides genetic insights into artificial selection and ecologic[...]
GP00002403
wg
P09615
Morphology
A specific large deletion (271 kb) is present in the 3′-flanking region of Wnt1. Wnt1 expression is significantly higher in the epidermis of heterozygous LC (LC/+) mutants than in normal strains (+/+).
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Wnt1
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius erato
crimson-patched longwing - (species)
Intraspecific
Association Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
GP00001205
WntA
A0A077DF90
Morphology
unknown
Heliconius erato
crimson-patched longwing - (species)
Heliconius erato
crimson-patched longwing - (species)
WntA
Heliconius erato
crimson-patched longwing - (species)
Published - Accepted by Curator
Xmrk
Hybrid incompatibility (melanoma)
Gene Loss,
Deletion
N
Xiphophorus malinche
highland swordtail - (species) D
Interspecific
Association Mapping
Powell DL; García-Olazábal M; Keegan M ; et al. (2020)
Natural hybridization reveals incompatible alleles that cause melanoma in swordtail fish.
GP00002137
xmrk
P13388
Physiology
Loss of Xmrk in several Xiphophorus species N
Xiphophorus birchmanni
sheepshead swordtail - (species)
Xiphophorus malinche
highland swordtail - (species) D
Xmrk
Xiphophorus malinche
highland swordtail - (species)
Published - Accepted by Curator
yellow
Coloration (wing)
Cis-regulatory,
Unknown
Danaus chrysippus
African queen - (species)
Intraspecific
Association Mapping
Martin SH; Singh KS; Gordon IJ ; et al. (2020)
Whole-chromosome hitchhiking driven by a male-killing endosymbiont.
GP00002430
y
P09957
Morphology
A cluster of SNPs most strongly associated with background colour (B locus) is found just upstream of the gene yellow and a phylogenetic network for a 30-kb region around yellow groups individuals nearly perfectly by phenotype; although some individuals classed as heterozygous were intermingled with homozygotes.
Danaus chrysippus
African queen - (species)
Danaus chrysippus
African queen - (species)
yellow
Danaus chrysippus
African queen - (species)
Published - Accepted by Curator
ZmNAC111
Drought tolerance
Cis-regulatory,
Insertion
N
Zea mays
(species) D
Domesticated
Association Mapping
Yang Q; Li Z; Li W ; et al. (2013)
CACTA-like transposable element in ZmCCT attenuated photoperiod sensitivity and accelerated the post[...]
GP00002084
Morphology; Physiology
MITE insertion within the ZmCCT promoter which results in histone hypermethylation and represses the expression of NAC; resulting in a higher drought tolerance. N
Zea mays
(species)
Zea mays
(species) D
ZmNAC111
Zea mays
(species)
Published - Accepted by Curator
ZmVPP1
Drought tolerance
Cis-regulatory,
Insertion
Zea mays
(species)
Intraspecific
Association Mapping
Wang X; Wang H; Liu S ; et al. (2016)
Genetic variation in ZmVPP1 contributes to drought tolerance in maize seedlings.
GP00001567
GRMZM2G170927
A0A172DSU8
Physiology
A 366-bp insertion in the promoter containing 3 MYB cis elements confers drought-inducible expression of ZmVPP1 in drought-tolerant genotypes
Zea mays
(species)
Zea mays
(species)
ZmVPP1
Zea mays
(species)
Published - Accepted by Curator
β-adrenergic octopamine receptor gene (AOR)
Xenobiotic resistance (amitraz)
Coding,
SNP
Rhipicephalus microplus
southern cattle tick - (species) D
Intraspecific
Association Mapping
Corley SW; Jonsson NN; Piper EK ; et al. (2013)
Mutation in the RmβAOR gene is associated with amitraz resistance in the cattle tick Rhipicephalus m[...]
1 Additional References
GP00002396
Oct-TyrR
P22270
Physiology
L64I
Rhipicephalus microplus
southern cattle tick - (species)
Rhipicephalus microplus
southern cattle tick - (species) D
β-adrenergic octopamine receptor gene (AOR)
Rhipicephalus microplus
southern cattle tick - (species)
Published - Accepted by Curator