18-wheeler
Pathogen resistance
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Lazzaro BP; Sackton TB; Clark AG (2006)
Genetic variation in Drosophila melanogaster resistance to infection: a comparison across bacteria.
GP00000001
18w
A1ZBR2
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
18-wheeler
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
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
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Indel
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Linkage Mapping
Tay WT; Mahon RJ; Heckel DG ; et al. (2015)
Insect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transpo[...]
GP00000002
ABCA2
A0A0S0G7V0
Physiology
65bp indel in exon16 inducing a frameshift N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
ABCA2
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Deletion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Tay WT; Mahon RJ; Heckel DG ; et al. (2015)
Insect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transpo[...]
GP00000003
ABCA2
A0A0S0G7V0
Physiology
5bp deletion inducing a frameshift N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
ABCA2
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Tay WT; Mahon RJ; Heckel DG ; et al. (2015)
Insect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transpo[...]
GP00000004
ABCA2
A0A0S0G7V0
Physiology
5bp (GAATA) nucleotide duplication inducing a frameshift N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
ABCA2
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Insertion
N
Trichoplusia ni
cabbage looper - (species) D
Intraspecific
Linkage Mapping
Yang X; Chen W; Song X ; et al. (2019)
Mutation of ABC transporter ABCA2 confers resistance to Bt toxin Cry2Ab in Trichoplusia ni.
GP00002054
ABCA2
A0A0S0G7V0
Physiology
insertion of a transposon Tntransib (2581 bp) in ABCA2 which changes splicing sites in the transcript and lead to an indel in the coding region: change of 1551VETLAHALGFLRHLDKR1567 into 1551AHWGK- LYGSNTQN1563 N
Trichoplusia ni
cabbage looper - (species)
Trichoplusia ni
cabbage looper - (species) D
ABCA2
Trichoplusia ni
cabbage looper - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Deletion
N
Helicoverpa punctigera
(species) D
Intraspecific
Candidate Gene
Tay WT; Mahon RJ; Heckel DG ; et al. (2015)
Insect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transpo[...]
GP00002056
ABCA2
A0A0S0G7V0
Physiology
14bp deletion resulting in missense mutations. N
Helicoverpa punctigera
(species)
Helicoverpa punctigera
(species) D
ABCA2
Helicoverpa punctigera
(species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Insertion
N
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Candidate Gene
Mathew LG; Ponnuraj J; Mallappa B ; et al. (2018)
ABC transporter mis-splicing associated with resistance to Bt toxin Cry2Ab in laboratory- and field-[...]
GP00002057
ABCA2
A0A0S0G7V0
Physiology
loss of exon 6 caused by alternative splicing N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
ABCA2
Pectinophora gossypiella
pink bollworm - (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
ABCC2
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Heliothis virescens
tobacco budworm - (species) D
Intraspecific
Linkage Mapping
Gahan LJ; Pauchet Y; Vogel H ; et al. (2010)
An ABC transporter mutation is correlated with insect resistance to Bacillus thuringiensis Cry1Ac to[...]
GP00000012
ABCC2
A0A0E3ZDK3
Physiology
22bp deletion N
Heliothis virescens
tobacco budworm - (species)
Heliothis virescens
tobacco budworm - (species) D
ABCC2
Heliothis virescens
tobacco budworm - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Linkage Mapping
Baxter SW; Badenes-Pérez FR; Morrison A ; et al. (2011)
Parallel evolution of Bacillus thuringiensis toxin resistance in lepidoptera.
GP00000013
ABCC2
A0A0E3ZDK3
Physiology
30bp deletion N
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
ABCC2
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide; Bt Cry1Ac)
Unknown,
Unknown
Trichoplusia ni
cabbage looper - (species) D
Intraspecific
Linkage Mapping
Baxter SW; Badenes-Pérez FR; Morrison A ; et al. (2011)
Parallel evolution of Bacillus thuringiensis toxin resistance in lepidoptera.
GP00000014
ABCC2
A0A0E3ZDK3
Physiology
Not identified
Trichoplusia ni
cabbage looper - (species)
Trichoplusia ni
cabbage looper - (species) D
ABCC2
Trichoplusia ni
cabbage looper - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide; Bt toxins)
Coding,
Deletion
N
Spodoptera exigua
beet armyworm - (species) D
Intraspecific
Linkage Mapping
Park Y; González-Martínez RM; Navarro-Cerrillo G ; et al. (2014)
ABCC transporters mediate insect resistance to multiple Bt toxins revealed by bulk segregant analysi[...]
GP00001439
Physiology
About 500 nt genomic deletion over 2 exons involving 246 nt coding 82aa N
Spodoptera exigua
beet armyworm - (species)
Spodoptera exigua
beet armyworm - (species) D
ABCC2
Spodoptera exigua
beet armyworm - (species)
Published - Accepted by Curator
Abdominal-B
Coloration (male-specific)
Unknown,
Unknown
Drosophila malerkotliana
(species)
Intraspecific
Linkage Mapping
Signor SA; Liu Y; Rebeiz M ; et al. (2016)
Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.
GP00001548
Abd-B
P09087
Morphology
unknown
Drosophila malerkotliana
(species)
Drosophila malerkotliana
(species)
Abdominal-B
Drosophila malerkotliana
(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
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
SNP
Homininae
(subfamily)
Intraspecific
Candidate Gene
Yamamoto F; Hakomori S (1990)
Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...]
1 Additional References
GP00000017
ABO
P16442
Physiology
Gly268 (group A) <-> Ala (group B)
Homininae
(subfamily)
Homininae
(subfamily)
ABO histo blood group glycosyltransferase
Homininae
(subfamily)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
SNP
Homininae
(subfamily)
Intraspecific
Candidate Gene
Yamamoto F; Hakomori S (1990)
Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...]
1 Additional References
GP00000018
ABO
P16442
Physiology
Leu266 (group A) <-> Met (group B)
Homininae
(subfamily)
Homininae
(subfamily)
ABO histo blood group glycosyltransferase
Homininae
(subfamily)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Yamamoto F; Hakomori S (1990)
Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...]
1 Additional References
GP00000019
ABO
P16442
Physiology
1bp deletion (258G) resulting in frameshift N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Yamamoto F; McNeill PD; Yamamoto M ; et al. (1993)
Molecular genetic analysis of the ABO blood group system: 4. Another type of O allele.
1 Additional References
GP00000020
ABO
P16442
Physiology
Arg176+Gly268 (group A) <-> Gly176+Arg268 (group O03 = weak AB allele rather than complete loss-of-function)
two nucleotide substitutions at nt. 526 and nt. 802. The authors have not examined whether both amino acid substitutions are necessary to disrupt the enzymatic activity or if one of them is sufficient. Nevertheless they assume that the single amino acid substitution at aa. 268 (glycine+arginine) may be crucial for their nullifying effect.
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
Insertion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Hosseini-Maaf B; Irshaid NM; Hellberg A ; et al. (2005)
New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes.
1 Additional References
GP00000021
ABO
P16442
Physiology
1bp insertion resulting in premature stop codon N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
SNP
N
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Hosseini-Maaf B; Irshaid NM; Hellberg A ; et al. (2005)
New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes.
1 Additional References
GP00000022
ABO
P16442
Physiology
1bp change resulting in stop codon N
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
Unknown
Pan troglodytes
chimpanzee - (species)
Intraspecific
Candidate Gene
Kermarrec N; Roubinet F; Apoil PA ; et al. (1999)
Comparison of allele O sequences of the human and non-human primate ABO system.
GP00000023
ABO
P16442
Physiology
Uncertain; possibly 9bp deletion resultin in 3a.a. deletion
Pan troglodytes
chimpanzee - (species)
Pan troglodytes
chimpanzee - (species)
ABO histo blood group glycosyltransferase
Pan troglodytes
chimpanzee - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Unknown,
Unknown
Pan troglodytes
chimpanzee - (species)
Intraspecific
Candidate Gene
Kermarrec N; Roubinet F; Apoil PA ; et al. (1999)
Comparison of allele O sequences of the human and non-human primate ABO system.
GP00000024
ABO
P16442
Physiology
unknown
Pan troglodytes
chimpanzee - (species)
Pan troglodytes
chimpanzee - (species)
ABO histo blood group glycosyltransferase
Pan troglodytes
chimpanzee - (species)
Published - Accepted by Curator
ACD6 = ACCELERATED CELL DEATH 6
Plant size
Pathogen resistance (plant microbes)
Herbivore resistance
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Todesco M; Balasubramanian S; Hu TT ; et al. (2010)
Natural allelic variation underlying a major fitness trade-off in Arabidopsis thaliana.
1 Additional References
GP00000025
ACD6
Q8LPS2
Physiology
Physiology
Physiology
Various
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
ACD6 = ACCELERATED CELL DEATH 6
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles albimanus
(species) D
Intraspecific
Candidate Gene
Weill M; Malcolm C; Chandre F ; et al. (2004)
The unique mutation in ace-1 giving high insecticide resistance is easily detectable in mosquito vec[...]
GP00000026
Ace
P07140
Physiology
G119S
Anopheles albimanus
(species)
Anopheles albimanus
(species) D
Acetylcholinesterase (Ace-1)
Anopheles albimanus
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Weill M; Lutfalla G; Mogensen K ; et al. (2003)
Comparative genomics: Insecticide resistance in mosquito vectors.
GP00000027
Ace
P07140
Physiology
G119S
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
Acetylcholinesterase (Ace-1)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Weill M; Lutfalla G; Mogensen K ; et al. (2003)
Comparative genomics: Insecticide resistance in mosquito vectors.
GP00000028
Ace
P07140
Physiology
Gly119Ser (119 is the corresponding position in Torpedo) - GGC to AGC
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Acetylcholinesterase (Ace-1)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Weill M; Lutfalla G; Mogensen K ; et al. (2003)
Comparative genomics: Insecticide resistance in mosquito vectors.
GP00000029
Ace
P07140
Physiology
Gly119Ser (119 is the corresponding position in Torpedo) - GGC to AGC
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Acetylcholinesterase (Ace-1)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex tritaeniorhynchus
(species) D
Intraspecific
Candidate Gene
Alout H; Berthomieu A; Cui F ; et al. (2007)
Different amino-acid substitutions confer insecticide resistance through acetylcholinesterase 1 inse[...]
GP00000030
Ace
P07140
Physiology
331W
Culex tritaeniorhynchus
(species)
Culex tritaeniorhynchus
(species) D
Acetylcholinesterase (Ace-1)
Culex tritaeniorhynchus
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex vishnui
(species) D
Intraspecific
Candidate Gene
Alout H; Berthomieu A; Cui F ; et al. (2007)
Different amino-acid substitutions confer insecticide resistance through acetylcholinesterase 1 inse[...]
GP00000031
Ace
P07140
Physiology
G119S
Culex vishnui
(species)
Culex vishnui
(species) D
Acetylcholinesterase (Ace-1)
Culex vishnui
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Assogba BS; Milesi P; Djogbénou LS ; et al. (2016)
The ace-1 Locus Is Amplified in All Resistant Anopheles gambiae Mosquitoes: Fitness Consequences of [...]
1 Additional References
GP00001372
Ace
P07140
Physiology
Strict tandem duplication of 203kb encompassing 12 genes ; ace1 heterogeneous gene duplication (susceptible G119 and resistant S119 copies)
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
Acetylcholinesterase (Ace-1)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Anopheles gambiae
African malaria mosquito - (species)
Intraspecific
Candidate Gene
Assogba BS; Milesi P; Djogbénou LS ; et al. (2016)
The ace-1 Locus Is Amplified in All Resistant Anopheles gambiae Mosquitoes: Fitness Consequences of [...]
GP00001373
Ace
P07140
Physiology
Strict tandem 3 times duplication of 203kb encompassing 12 genes with partial internal deletion of 97kb in the third copy - ace1 homogeneous gene duplications (all 3 copies S119 resistant)
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species)
Acetylcholinesterase (Ace-1)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Assogba BS; Milesi P; Djogbénou LS ; et al. (2016)
The ace-1 Locus Is Amplified in All Resistant Anopheles gambiae Mosquitoes: Fitness Consequences of [...]
GP00001374
Ace
P07140
Physiology
Strict tandem 5 times duplication of 203kb encompassing 12 genes - ace1 homogeneous gene duplications (all 5 copies S119 resistant)
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
Acetylcholinesterase (Ace-1)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
4 Mutations:
Coding
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Mutero A; Pralavorio M; Bride JM ; et al. (1994)
Resistance-associated point mutations in insecticide-insensitive acetylcholinesterase.
2 Additional References
GP00002011
Ace
P07140
Physiology
4 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Mutero A; Pralavorio M; Bride JM ; et al. (1994)
Resistance-associated point mutations in insecticide-insensitive acetylcholinesterase.
GP00002012
Ace
P07140
Physiology
Ile199Thr (position 129 in the corresponding mature Torpedo AChE). Tested in vitro in Xenopus oocytes
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Menozzi P; Shi MA; Lougarre A ; et al. (2004)
Mutations of acetylcholinesterase which confer insecticide resistance in Drosophila melanogaster pop[...]
GP00002016
Ace
P07140
Physiology
Gly368Ala (position 328 in the corresponding mature Torpedo AChE). Tested in vitro in Xenopus oocytes - GGC>GCC
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
3 Mutations:
Aphis gossypii
cotton aphid - (species)
Intraspecific
Candidate Gene
Shang Q; Pan Y; Fang K ; et al. (2014)
Extensive Ace2 duplication and multiple mutations on Ace1 and Ace2 are related with high level of or[...]
GP00000036
Ace
P07140
Physiology
3 mutations
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species)
Acetylcholinesterase (Ace)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Bactrocera oleae
olive fruit fly - (species) D
Intraspecific
Candidate Gene
Vontas JG; Hejazi MJ; Hawkes NJ ; et al. (2002)
Resistance-associated point mutations of organophosphate insensitive acetylcholinesterase, in the ol[...]
GP00000037
Ace
P07140
Physiology
2 mutations
Bactrocera oleae
olive fruit fly - (species)
Bactrocera oleae
olive fruit fly - (species) D
Acetylcholinesterase (Ace)
Bactrocera oleae
olive fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
Deletion
Bactrocera oleae
olive fruit fly - (species) D
Intraspecific
Candidate Gene
Kakani EG; Ioannides IM; Margaritopoulos JT ; et al. (2008)
A small deletion in the olive fly acetylcholinesterase gene associated with high levels of organopho[...]
1 Additional References
GP00000038
Ace
P07140
Physiology
9bp deletion of three glutamine residues at positions 642_644
Bactrocera oleae
olive fruit fly - (species)
Bactrocera oleae
olive fruit fly - (species) D
Acetylcholinesterase (Ace)
Bactrocera oleae
olive fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Zhu KY; Lee SH; Clark JM (1996)
A Point Mutation of Acetylcholinesterase Associated with Azinphosmethyl Resistance and Reduced Fitne[...]
GP00000039
Ace
P07140
Physiology
Ser->Gly at position 238 of the Torpedo AChE
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Acetylcholinesterase (Ace)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000040
Ace
P07140
Physiology
Gly365Ala
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000041
Ace
P07140
Physiology
Gly262Val
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000042
Ace
P07140
Physiology
Val180Leu
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000043
Ace
P07140
Physiology
Gly262Ala
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000044
Ace
P07140
Physiology
Phe327Tyr
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Bactrocera dorsalis
oriental fruit fly - (species) D
Intraspecific
Candidate Gene
Hsu JC; Haymer DS; Wu WJ ; et al. (2006)
Mutations in the acetylcholinesterase gene of Bactrocera dorsalis associated with resistance to orga[...]
GP00000045
Ace
P07140
Physiology
2 mutations
Bactrocera dorsalis
oriental fruit fly - (species)
Bactrocera dorsalis
oriental fruit fly - (species) D
Acetylcholinesterase (Ace)
Bactrocera dorsalis
oriental fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
GP00002013
Ace
P07140
Physiology
several non-synonymous SNP - exact causing amino acid change(s) unknown
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Zhu KY; Lee SH; Clark JM (1996)
A Point Mutation of Acetylcholinesterase Associated with Azinphosmethyl Resistance and Reduced Fitne[...]
GP00002014
Ace
P07140
Physiology
Ser>Gly (238 is the corresponding position in Torpedo)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Acetylcholinesterase (Ace)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Nabeshima T; Kozaki T; Tomita T ; et al. (2003)
An amino acid substitution on the second acetylcholinesterase in the pirimicarb-resistant strains of[...]
GP00002015
Ace
P07140
Physiology
Ser431Phe (position 331 in mature Torpedo protein)
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
Acetylcholinesterase (Ace)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
achaete-scute complex
Bristle number (abdomen; female-limited)
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Long AD; Lyman RF; Morgan AH ; et al. (2000)
Both naturally occurring insertions of transposable elements and intermediate frequency polymorphism[...]
GP00000046
sc
P10084
Morphology
transposon insertion in non-coding region
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
achaete-scute complex
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
achaete-scute complex
Bristle number (abdomen)
Cis-regulatory,
Indel
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Long AD; Lyman RF; Morgan AH ; et al. (2000)
Both naturally occurring insertions of transposable elements and intermediate frequency polymorphism[...]
GP00000047
sc
P10084
Morphology
indel MC21 in promoter region of scute
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
achaete-scute complex
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
achaete-scute complex
Bristle number (thorax)
Cis-regulatory,
Indel
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Gruber JD; Genissel A; Macdonald SJ ; et al. (2007)
How repeatable are associations between polymorphisms in achaete-scute and bristle number variation [...]
GP00000048
sc
P10084
Morphology
indel MC22 in promoter region of scute
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
achaete-scute complex
Drosophila melanogaster
fruit fly - (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
AGAMOUS-Like6
Plant architecture
Inflorescence architecture
Coding,
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Huang X; Effgen S; Meyer RC ; et al. (2012)
Epistatic natural allelic variation reveals a function of AGAMOUS-LIKE6 in axillary bud formation in[...]
GP00000053
AGL6
P29386
Morphology
Morphology
Pro201Leu
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AGAMOUS-Like6
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Agouti
Coloration (coat; dorso-ventral)
Gene Loss,
Deletion
N
Peromyscus polionotus
oldfield mouse - (species)
Intraspecific
Candidate Gene
Kingsley EP; Manceau M; Wiley CD ; et al. (2009)
Melanism in peromyscus is caused by independent mutations in agouti.
GP00000055
Asip
Q03288
Morphology
125kb deletion including 5' CDS of Agouti N
Peromyscus polionotus
oldfield mouse - (species)
Peromyscus polionotus
oldfield mouse - (species)
Agouti
Peromyscus polionotus
oldfield mouse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat; dorso-ventral)
Coding,
SNP
N
Peromyscus polionotus
oldfield mouse - (species)
Intraspecific
Candidate Gene
Kingsley EP; Manceau M; Wiley CD ; et al. (2009)
Melanism in peromyscus is caused by independent mutations in agouti.
GP00000056
Asip
Q03288
Morphology
Premature stop codon at residue 65 N
Peromyscus polionotus
oldfield mouse - (species)
Peromyscus polionotus
oldfield mouse - (species)
Agouti
Peromyscus polionotus
oldfield mouse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat; dorso-ventral)
Cis-regulatory,
Unknown
Peromyscus polionotus
oldfield mouse - (species)
Intraspecific
Linkage Mapping
Manceau M; Domingues VS; Mallarino R ; et al. (2011)
The developmental role of Agouti in color pattern evolution.
GP00000057
Asip
Q03288
Morphology
Not identified
Peromyscus polionotus
oldfield mouse - (species)
Peromyscus polionotus
oldfield mouse - (species)
Agouti
Peromyscus polionotus
oldfield mouse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Intraspecific
Linkage Mapping
Rieder S; Taourit S; Mariat D ; et al. (2001)
Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their associati[...]
1 Additional References
GP00000062
Asip
Q03288
Morphology
11bp deletion in exon 2: g.2174_2184del11 c.191_201del N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Agouti
Equus caballus
horse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
N
Panthera pardus
leopard - (species) D
Intraspecific
Candidate Gene
Schneider A; David VA; Johnson WE ; et al. (2012)
How the leopard hides its spots: ASIP mutations and melanism in wild cats.
GP00000065
Asip
Q03288
Morphology
nonsense mutation located in exon 4 (C333A) predicted to introduce a stop codon at amino acid position 111 N
Panthera pardus
leopard - (species)
Panthera pardus
leopard - (species) D
Agouti
Panthera pardus
leopard - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
Catopuma temminckii
Asiatic golden cat - (species)
Intraspecific
Candidate Gene
Schneider A; David VA; Johnson WE ; et al. (2012)
How the leopard hides its spots: ASIP mutations and melanism in wild cats.
GP00000066
Asip
Q03288
Morphology
C128W (384C>G)
Catopuma temminckii
Asiatic golden cat - (species)
Catopuma temminckii
Asiatic golden cat - (species)
Agouti
Catopuma temminckii
Asiatic golden cat - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
N
Leopardus colocolo
Colocolo - (species) D
Intraspecific
Candidate Gene
Schneider A; Henegar C; Day K ; et al. (2015)
Recurrent evolution of melanism in South American felids.
GP00001731
Asip
Q03288
Morphology
Arg to Cys substitution in the C-terminal region of ASIP (p.R120C) lies in the critical RFF loop (e.g. a triplet motif made of one arginine and two phenylalanine residues) required for binding to the MC1R N
Leopardus colocolo
Colocolo - (species)
Leopardus colocolo
Colocolo - (species) D
Agouti
Leopardus colocolo
Colocolo - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
N
Leopardus guigna
Kodkod - (species) D
Intraspecific
Candidate Gene
Schneider A; Henegar C; Day K ; et al. (2015)
Recurrent evolution of melanism in South American felids.
GP00001732
Asip
Q03288
Morphology
Cys to Tyr substitution in ASIP (p.C126Y) which affects the key disulfide bond that stabilizes the RFF loop N
Leopardus guigna
Kodkod - (species)
Leopardus guigna
Kodkod - (species) D
Agouti
Leopardus guigna
Kodkod - (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)
Gene Loss,
Deletion
N
Peromyscus maniculatus
North American deer mouse - (species)
Intraspecific
Candidate Gene
Kingsley EP; Manceau M; Wiley CD ; et al. (2009)
Melanism in peromyscus is caused by independent mutations in agouti.
GP00001975
Asip
Q03288
Morphology
125kb deletion ; recessive mutation 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
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)
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)
Lifespan
2 Mutations:
Coding
N
Ovis aries
sheep - (species) D
Intraspecific
Linkage Mapping
Gratten J; Pilkington JG; Brown EA ; et al. (2010)
The genetic basis of recessive self-colour pattern in a wild sheep population.
1 Additional References
GP00001356
Asip
Q03288
Morphology
Physiology
2 mutations
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Agouti (ASIP)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
Deletion
N
D
Intraspecific
Candidate Gene
Miller SM; Guthrie AJ; Harper CK (2016)
Single base-pair deletion in ASIP exon 3 associated with recessive black phenotype in impala (Aepyce[...]
GP00001977
Asip
Q03288
Morphology
recessive c.174delA was found in all black phenotype sequences ; premature stop codon (239–241 bp) N
D
Agouti (ASIP)
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
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
AHR
Xenobiotic resistance (TCDD)
Coding,
SNP
N
Rattus norvegicus
Norway rat - (species) D
Intraspecific
Linkage Mapping
Tuomisto JT; Viluksela M; Pohjanvirta R ; et al. (1999)
The AH receptor and a novel gene determine acute toxic responses to TCDD: segregation of the resista[...]
2 Additional References
GP00001813
Ahr
P30561
Physiology
point mutation in the exon/intron 10 boundary in AHR genomic structure that leads to use of 3 alternative cryptic splice sites; potentially creating 3 alternative transcripts and 2 protein products. At the protein level the mutation leads to a total loss of either 43 or 38 amino acids (with altered sequence for the last seven amino acids in the latter case) toward the carboxyl-terminal end in the trans-activation domain of the AhR. H/W rats also harbor a point mutation in exon 10 that will cause a Val-to-Ala substitution in codon 497, but this occurs in a variable region of the AhR N
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species) D
AHR
Rattus norvegicus
Norway rat - (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; polychlorinated biphenyls; PCBs)
Coding,
Deletion
N
Microgadus tomcod
Atlantic tomcod - (species) D
Intraspecific
Candidate Gene
Wirgin I; Roy NK; Loftus M ; et al. (2011)
Mechanistic basis of resistance to PCBs in Atlantic tomcod from the Hudson River.
GP00001809
Ahr
P30561
Physiology
6-bp deletion - (nts 1314 to 1319 in exon 10; TTCCTC) that resulted in a two-amino acid (Phe-Leu) deletion located 43 amino acids downstream of the amino terminal of the AHR2 ligand binding domain N
Microgadus tomcod
Atlantic tomcod - (species)
Microgadus tomcod
Atlantic tomcod - (species) D
AHR2
Microgadus tomcod
Atlantic tomcod - (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
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
6 Mutations:
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Choudhary M; Laurie CC (1991)
Use of in vitro mutagenesis to analyze the molecular basis of the difference in Adh expression assoc[...]
4 Additional References
GP00001962
Adh
P00334
Physiology
6 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
Coding,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Vigue C; Sofer W (1974)
Adh-n5: a temperature-sensitive mutant at the Adh locus in Drosophila.
GP00001988
Adh
P00334
Physiology
Activity of the purified enzyme is temperature-sensitive; as opposed to the other allele which is not. Exact coding mutation(s) unknown.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Strand DJ; McDonald JF (1989)
Insertion of a copia element 5' to the Drosophila melanogaster alcohol dehydrogenase gene (adh) is a[...]
GP00001989
Adh
P00334
Physiology
insertion of a complete 5.2kb copia retroviral-like transposable element 240 bp upstream from the distal (adult) adh transcriptional start site
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
Coding,
Insertion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Freeth AL; Gibson JB; Wilks AV (1990)
Aberrant splicing of a naturally occurring alcohol dehydrogenase null activity allele in Drosophila [...]
1 Additional References
GP00001990
Adh
P00334
Physiology
eight extra nucleotides (in two groups of four) in the second intron commencing six bases 3' from the 5' splice site. A stop codon was also found in exon 2. S1 nuclease protection experiments have shown that the insertions in intron 2 disrupt the correct splicing of intron 2. The null allele produces a transcript approximately 100 bases longer than the normal mature adult transcript, and the amount of the null allele transcript is only about 10% of the normal level. N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
Coding,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Gibson JB; Wilks AV; Agrotis A (1992)
Molecular relationships between alcohol dehydrogenase null-activity alleles from natural populations[...]
GP00001991
Adh
P00334
Physiology
438-bp deletion which removes most of exon 2. Lys to Thr substitution: ACG at the sites 1489--1491 N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (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
Aldehyde dehydrogenase (Aldh)
Xenobiotic resistance (alcohol)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Fry JD; Donlon K; Saweikis M (2008)
A worldwide polymorphism in aldehyde dehydrogenase in Drosophila melanogaster: evidence for selectio[...]
GP00002007
Aldh
Q9VLC5
Physiology
L479F C9391311T
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Aldehyde dehydrogenase (Aldh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Allantoin permease DAL4
Nitrogen use (growth rate on allantoin)
Coding,
Indel
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Intraspecific
Linkage Mapping
Ibstedt S; Stenberg S; Bagés S ; et al. (2015)
Concerted evolution of life stage performances signals recent selection on yeast nitrogen use.
GP00001503
DAL4
Q04895
Physiology
c.1201delA a single nucleotide frameshifting insertion (deletion?) N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Allantoin permease DAL4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Allantoinase DAL1
Nitrogen use (growth rate on allantoin)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Intraspecific
Linkage Mapping
Ibstedt S; Stenberg S; Bagés S ; et al. (2015)
Concerted evolution of life stage performances signals recent selection on yeast nitrogen use.
GP00001502
DAL1
P32375
Physiology
c.415C>T p.P139S predicted to be strongly detrimental
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Allantoinase DAL1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ALS
Xenobiotic resistance (herbicides; ALS inhibitor)
Coding,
SNP
Amaranthus tuberculatus
(species) D
Intraspecific
Linkage Mapping
Patzoldt William L; Tranel Patrick J (2007
)
Multiple ALS mutations confer herbicide resistance in waterhemp (Amaranthus tuberculatus)
GP00001893
ALS
P17597
Physiology
W574L
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
ALS
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
ALS
Xenobiotic resistance (herbicides; ALS inhibitor)
Coding,
SNP
Amaranthus tuberculatus
(species) D
Intraspecific
Linkage Mapping
Patzoldt William L; Tranel Patrick J (2007
)
Multiple ALS mutations confer herbicide resistance in waterhemp (Amaranthus tuberculatus)
GP00001894
ALS
P17597
Physiology
S653N
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
ALS
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
ALS
Xenobiotic resistance (herbicides; ALS inhibitor)
Coding,
SNP
Amaranthus tuberculatus
(species) D
Intraspecific
Linkage Mapping
Patzoldt William L; Tranel Patrick J (2007
)
Multiple ALS mutations confer herbicide resistance in waterhemp (Amaranthus tuberculatus)
GP00001895
ALS
P17597
Physiology
S653T
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
ALS
Amaranthus tuberculatus
(species)
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
AMPD1 (=CG32626)
Drug resistance
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Kislukhin G; King EG; Walters KN ; et al. (2013)
The genetic architecture of methotrexate toxicity is similar in Drosophila melanogaster and humans.
GP00000083
AMPD1
P23109
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
AMPD1 (=CG32626)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
AMPD1 [clinical; candidate gene study; added for insights on fly-human parallelism]
Drug resistance
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Wessels JA; van der Kooij SM; le Cessie S ; et al. (2007)
A clinical pharmacogenetic model to predict the efficacy of methotrexate monotherapy in recent-onset[...]
GP00000084
AMPD1
P23109
Physiology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
AMPD1 [clinical; candidate gene study; added for insights on fly-human parallelism]
Homo sapiens
human - (species)
Published - Accepted by Curator
amylase
Starch processing
Gene Amplification,
Insertion
Meles leucurus
Asian badger - (species) D
Intraspecific
Candidate Gene
Abduriyim Shamshidin; Nishita Yoshinori; Abramov AV ; et al. (2019
)
Variation in pancreatic amylase gene copy number among Eurasian badgers (Carnivora, Mustelidae, Mele[...]
GP00001907
Amy1
P00687
Physiology
Copy Number Variation varies between one and four in this species
Meles leucurus
Asian badger - (species)
Meles leucurus
Asian badger - (species) D
amylase
Meles leucurus
Asian badger - (species)
Published - Accepted by Curator
amylase 1 (AMY1)
Starch processing
Gene Amplification,
Insertion
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Perry GH; Dominy NJ; Claw KG ; et al. (2007)
Diet and the evolution of human amylase gene copy number variation.
2 Additional References
GP00000085
AMY1A
P04745
Physiology
Probably gene duplication
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
amylase 1 (AMY1)
Homo sapiens
human - (species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
Deletion
N
Petunia axillaris
(species) D
Intraspecific
Candidate Gene
Quattrocchio F; Wing J; van der Woude K ; et al. (1999)
Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]
GP00000089
AN2
A4GRU8
Morphology
1bp deletion at a.a. 127; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species) D
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
Insertion
N
Petunia axillaris
(species) D
Intraspecific
Candidate Gene
Quattrocchio F; Wing J; van der Woude K ; et al. (1999)
Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]
GP00000090
AN2
A4GRU8
Morphology
4bp insertion at a.a. 127; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species) D
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
SNP
N
Petunia axillaris
(species)
Intraspecific
Candidate Gene
Quattrocchio F; Wing J; van der Woude K ; et al. (1999)
Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]
GP00000091
AN2
A4GRU8
Morphology
W196* N
Petunia integrifolia
(species)
Petunia axillaris
(species)
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
Deletion
N
Petunia axillaris
(species) D
Intraspecific
Candidate Gene
Hoballah ME; Gübitz T; Stuurman J ; et al. (2007)
Single gene-mediated shift in pollinator attraction in Petunia.
GP00000092
AN2
A4GRU8
Morphology
1bp deletion; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species) D
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
AOP2
Glucosinolate content
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Kliebenstein DJ; Lambrix VM; Reichelt M ; et al. (2001)
Gene duplication in the diversification of secondary metabolism: tandem 2-oxoglutarate-dependent dio[...]
2 Additional References
GP00000095
AOP2
Q945B5
Physiology
5bp deletion resulting in frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AOP2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AOP3
Glucosinolate content
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Kliebenstein DJ; Lambrix VM; Reichelt M ; et al. (2001)
Gene duplication in the diversification of secondary metabolism: tandem 2-oxoglutarate-dependent dio[...]
2 Additional References
GP00000096
AOP3
Q9ZTA1
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AOP3
Arabidopsis thaliana
thale cress - (species)
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
APL1 cluster
Pathogen resistance (Plasmodium; malaria parasite)
Unknown,
Unknown
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Linkage Mapping
Riehle MM; Markianos K; Niaré O ; et al. (2006)
Natural malaria infection in Anopheles gambiae is regulated by a single genomic control region.
1 Additional References
GP00000098
APL1A
L7RQU1
Physiology
Not identified
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
APL1 cluster
Anopheles gambiae
African malaria mosquito - (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
APSR
Sulfate content (shoot)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Loudet O; Saliba-Colombani V; Camilleri C ; et al. (2007)
Natural variation for sulfate content in Arabidopsis thaliana is highly controlled by APR2.
GP00000100
APR2
P92981
Physiology
A399E N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
APSR
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
arcp-1
CO2 avoidance
Aggregation behavior
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Beets I; Zhang G; Fenk LA ; et al. (2019)
Natural Variation in a Dendritic Scaffold Protein Remodels Experience-Dependent Plasticity by Alteri[...]
GP00002067
CELE_F34D10.6
C6KRH4
Behavior
Behavior
8 bp deletion (mfP22) in the open reading frame N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
arcp-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
ARHGAP11B
Neocortex development (basal progenitor amplification)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Florio M; Namba T; Pääbo S ; et al. (2016)
A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification.
GP00001442
ARHGAP11B
Q3KRB8
Morphology
c.661C>G new splice site mutation removing 55nt from exon 5 truncating a GAP domain N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
ARHGAP11B
Homo sapiens
human - (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
aristaless
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius cydno
(species) D
Intraspecific
Linkage Mapping
Westerman EL; VanKuren NW; Massardo D ; et al. (2018)
Aristaless Controls Butterfly Wing Color Variation Used in Mimicry and Mate Choice.
GP00002059
al
Q06453
Morphology
gain of expression - exact mutation unknown
Heliconius cydno
(species)
Heliconius cydno
(species) D
aristaless
Heliconius cydno
(species)
Published - Accepted by Curator
AT5G41740/AT5G41750
Hybrid incompatibility (auto-immune necrosis)
Unknown,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Bomblies K; Lempe J; Epple P ; et al. (2007)
Autoimmune response as a mechanism for a Dobzhansky-Muller-type incompatibility syndrome in plants.
GP00000105
MUF8.2
F4JYI4
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AT5G41740/AT5G41750
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Luo Y; Dong X; Yu T ; et al. (2015)
A Single Nucleotide Deletion in Gibberellin20-oxidase1 Causes Alpine Dwarfism in Arabidopsis.
GP00001243
GA20OX1
Q39110
Morphology
-1bp at position 184 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtHKT1
Salt tolerance
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Rus A; Baxter I; Muthukumar B ; et al. (2006)
Natural variants of AtHKT1 enhance Na+ accumulation in two wild populations of Arabidopsis.
1 Additional References
GP00000124
HKT1
Q84TI7
Physiology
725bp deletion of part of upstream repeat region
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtHKT1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtHKT1
Salt tolerance
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Rus A; Baxter I; Muthukumar B ; et al. (2006)
Natural variants of AtHKT1 enhance Na+ accumulation in two wild populations of Arabidopsis.
1 Additional References
GP00000125
HKT1
Q84TI7
Physiology
687bp deletion of part of upstream repeat region
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtHKT1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtMYC1
Trichome density (leaf)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Symonds VV; Hatlestad G; Lloyd AM (2011)
Natural allelic variation defines a role for ATMYC1: trichome cell fate determination.
1 Additional References
GP00001268
BHLH12
Q8W2F1
Morphology
P189A
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtMYC1
Arabidopsis thaliana
thale cress - (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
ATR13
Pathogenicity
Coding,
SNP
Hyaloperonospora parasitica
(species)
Intraspecific
Linkage Mapping
Allen RL; Bittner-Eddy PD; Grenville-Briggs LJ ; et al. (2004)
Host-parasite coevolutionary conflict between Arabidopsis and downy mildew.
1 Additional References
GP00000128
Atr13
Q5G7K8
Physiology
Multiple coding changes - the avirulence allele ATR13‐Maks9 and the virulence allele ATR13‐Emoy2 only encode differences in the C‐terminal domain (in 11 amino acids) - domain swaps show that one or more of the amino acids in Region A are required for recognition and one or more in Region B are required to elicit a full recognition phenotype. - exact causing mutations unknown
Hyaloperonospora parasitica
(species)
Hyaloperonospora parasitica
(species)
ATR13
Hyaloperonospora parasitica
(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
avpr1a
Male sexual fidelity (monogamous regime)
Cis-regulatory,
Unknown
Microtus ochrogaster
prairie vole - (species)
Intraspecific
Candidate Gene
Okhovat M; Berrio A; Wallace G ; et al. (2015)
Sexual fidelity trade-offs promote regulatory variation in the prairie vole brain.
1 Additional References
GP00000129
Avpr1a
Q62463
Behavior
unknown
Microtus ochrogaster
prairie vole - (species)
Microtus ochrogaster
prairie vole - (species)
avpr1a
Microtus ochrogaster
prairie vole - (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
bab1
Coloration (abdomen)
3 Mutations:
Cis-regulatory
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Kopp A; Graze RM; Xu S ; et al. (2003)
Quantitative trait loci responsible for variation in sexually dimorphic traits in Drosophila melanog[...]
1 Additional References
GP00000130
bab1
Q9W0K7
Morphology
3 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
bab1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
bab2
Fertility (ovariole number)
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Green DA; Extavour CG (2012)
Convergent evolution of a reproductive trait through distinct developmental mechanisms in Drosophila[...]
1 Additional References
GP00000132
bab2
Q9W0K4
Physiology
unknown ; loss of function reduces ovariole number
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
bab2
Drosophila melanogaster
fruit fly - (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
BCMA
Glucosinolate content
Herbivore resistance
3 Mutations:
Boechera stricta
(species)
Intraspecific
Linkage Mapping
Prasad KV; Song BH; Olson-Manning C ; et al. (2012)
A gain-of-function polymorphism controlling complex traits and fitness in nature.
GP00000136
J9QWI9
Physiology
Physiology
3 mutations
Boechera stricta
(species)
Boechera stricta
(species)
BCMA
Boechera stricta
(species)
Published - Accepted by Curator
beta-defensin 103 (CBD103) [pseudo-replicate of Dog entry; introgression of Dog allele]
Coloration (coat)
Coding,
Deletion
Canis latrans
coyote - (species) D
Intraspecific
Linkage Mapping
Anderson TM; vonHoldt BM; Candille SI ; et al. (2009)
Molecular and evolutionary history of melanism in North American gray wolves.
1 Additional References
GP00000142
CBD103
Q30KV0
Morphology
3bp in-frame deletion in exon 2 = deletion of Gly23
Canis lupus
gray wolf - (species)
Canis latrans
coyote - (species) D
beta-defensin 103 (CBD103) [pseudo-replicate of Dog entry; introgression of Dog allele]
Canis latrans
coyote - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001263
BGLU6
Q682B4
Physiology
T-> A of a splice site at position 168 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001264
BGLU6
Q682B4
Physiology
1-bp deletion of a splice site at position 395 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001265
BGLU6
Q682B4
Physiology
GAG to stop codon TAG at position 913 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001266
BGLU6
Q682B4
Physiology
A deletion of one nucleotide in the seventh exon (BGLU6 CDS position 678) results in a premature stop codon in the accessions Bor-4, Se-0, Uod-1, and Zdr-1. premature stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001267
BGLU6
Q682B4
Physiology
GAG to stop codon TAG at position 1138 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Haemonchus contortus
barber pole worm - (species) D
Intraspecific
Candidate Gene
Kwa MS; Veenstra JG; Roos MH (1994)
Benzimidazole resistance in Haemonchus contortus is correlated with a conserved mutation at amino ac[...]
1 Additional References
GP00001785
TUB2
P02557
Physiology
Phe200Tyr
Haemonchus contortus
barber pole worm - (species)
Haemonchus contortus
barber pole worm - (species) D
beta-tubulin
Haemonchus contortus
barber pole worm - (species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Trichostrongylus colubriformis
(species) D
Intraspecific
Candidate Gene
Kwa MS; Veenstra JG; Roos MH (1994)
Benzimidazole resistance in Haemonchus contortus is correlated with a conserved mutation at amino ac[...]
1 Additional References
GP00001786
TUB2
P02557
Physiology
Phe200Tyr
Trichostrongylus colubriformis
(species)
Trichostrongylus colubriformis
(species) D
beta-tubulin
Trichostrongylus colubriformis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Venturia inaequalis
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001788
TUB2
P02557
Physiology
Phe200Tyr
Venturia inaequalis
(species)
Venturia inaequalis
(species) D
beta-tubulin
Venturia inaequalis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001789
TUB2
P02557
Physiology
Phe200Tyr
D
beta-tubulin
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium italicum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001790
TUB2
P02557
Physiology
Phe200Tyr
Penicillium italicum
(species)
Penicillium italicum
(species) D
beta-tubulin
Penicillium italicum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium aurantiogriseum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001791
TUB2
P02557
Physiology
Phe200Tyr
Penicillium aurantiogriseum
(species)
Penicillium aurantiogriseum
(species) D
beta-tubulin
Penicillium aurantiogriseum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium aurantiogriseum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001792
TUB2
P02557
Physiology
Glu198Lys
Penicillium aurantiogriseum
(species)
Penicillium aurantiogriseum
(species) D
beta-tubulin
Penicillium aurantiogriseum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium viridicatum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001793
TUB2
P02557
Physiology
Glu198Lys
Penicillium viridicatum
(species)
Penicillium viridicatum
(species) D
beta-tubulin
Penicillium viridicatum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Clarireedia homoeocarpa
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001794
TUB2
P02557
Physiology
Glu1198Lys
Clarireedia homoeocarpa
(species)
Clarireedia homoeocarpa
(species) D
beta-tubulin
Clarireedia homoeocarpa
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Venturia inaequalis
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001795
TUB2
P02557
Physiology
Glu1198Lys
Venturia inaequalis
(species)
Venturia inaequalis
(species) D
beta-tubulin
Venturia inaequalis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Venturia inaequalis
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001796
TUB2
P02557
Physiology
Glu1198Ala
Venturia inaequalis
(species)
Venturia inaequalis
(species) D
beta-tubulin
Venturia inaequalis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001797
TUB2
P02557
Physiology
Glu1198Ala
D
beta-tubulin
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Monilinia fructicola
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001798
TUB2
P02557
Physiology
Glu1198Lys
Monilinia fructicola
(species)
Monilinia fructicola
(species) D
beta-tubulin
Monilinia fructicola
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium puberulum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001799
TUB2
P02557
Physiology
Glu1198Lys
Penicillium puberulum
(species)
Penicillium puberulum
(species) D
beta-tubulin
Penicillium puberulum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium puberulum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001800
TUB2
P02557
Physiology
Glu1198Ala
Penicillium puberulum
(species)
Penicillium puberulum
(species) D
beta-tubulin
Penicillium puberulum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium digitatum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001801
TUB2
P02557
Physiology
Glu1198Lys
Penicillium digitatum
(species)
Penicillium digitatum
(species) D
beta-tubulin
Penicillium digitatum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium expansum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001802
TUB2
P02557
Physiology
Glu1198Ala
Penicillium expansum
(species)
Penicillium expansum
(species) D
beta-tubulin
Penicillium expansum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium italicum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001803
TUB2
P02557
Physiology
Glu198Lys
Penicillium italicum
(species)
Penicillium italicum
(species) D
beta-tubulin
Penicillium italicum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Teladorsagia circumcincta
(species) D
Intraspecific
Candidate Gene
Elard L; Humbert JF (1999)
Importance of the mutation of amino acid 200 of the isotype 1 beta-tubulin gene in the benzimidazole[...]
GP00001815
TUB2
P02557
Physiology
Phe200Tyr
Teladorsagia circumcincta
(species)
Teladorsagia circumcincta
(species) D
beta-tubulin
Teladorsagia circumcincta
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Haemonchus contortus
barber pole worm - (species) D
Intraspecific
Candidate Gene
Prichard R; Oxberry M; Bounhas Y ; et al. (2000
)
Polymerisation and benzimidazole binding assays with recombinant α-and β-tubulins from Haemonchus co[...]
2 Additional References
GP00001816
TUB2
P02557
Physiology
Phe167Tyr - In vitro assays have demonstrated that a Tyr residue in position 167 of b-tubulin impeded BZ binding with recombinant H. contortus b-tubulin (produced in a prokaryote system)
Haemonchus contortus
barber pole worm - (species)
Haemonchus contortus
barber pole worm - (species) D
beta-tubulin
Haemonchus contortus
barber pole worm - (species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Cyathostoma
(genus) D
Intraspecific
Candidate Gene
Silvestre A; Cabaret J (2002)
Mutation in position 167 of isotype 1 beta-tubulin gene of Trichostrongylid nematodes: role in benzi[...]
1 Additional References
GP00001817
TUB2
P02557
Physiology
Phe167Tyr - In vitro assays have demonstrated that a Tyr residue in position 167 of b-tubulin impeded BZ binding with recombinant H. contortus and S. cerevisiae b-tubulin (produced in a prokaryote system)
Cyathostoma
(genus)
Cyathostoma
(genus) D
beta-tubulin
Cyathostoma
(genus)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Neurospora crassa
(species) D
Intraspecific
Candidate Gene
Orbach MJ; Porro EB; Yanofsky C (1986)
Cloning and characterization of the gene for beta-tubulin from a benomyl-resistant mutant of Neurosp[...]
GP00001818
TUB2
P02557
Physiology
Phe167Tyr
Neurospora crassa
(species)
Neurospora crassa
(species) D
beta-tubulin
Neurospora crassa
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Teladorsagia circumcincta
(species) D
Intraspecific
Candidate Gene
Silvestre A; Cabaret J (2002)
Mutation in position 167 of isotype 1 beta-tubulin gene of Trichostrongylid nematodes: role in benzi[...]
GP00001819
TUB2
P02557
Physiology
Phe167Tyr
Teladorsagia circumcincta
(species)
Teladorsagia circumcincta
(species) D
beta-tubulin
Teladorsagia circumcincta
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Haemonchus contortus
barber pole worm - (species) D
Intraspecific
Candidate Gene
Ghisi M; Kaminsky R; Mäser P (2007)
Phenotyping and genotyping of Haemonchus contortus isolates reveals a new putative candidate mutatio[...]
GP00001820
TUB2
P02557
Physiology
Glu198Ala
Haemonchus contortus
barber pole worm - (species)
Haemonchus contortus
barber pole worm - (species) D
beta-tubulin
Haemonchus contortus
barber pole worm - (species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula yallundae
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
GP00001821
TUB2
P02557
Physiology
Phe200Tyr
Oculimacula yallundae
(species)
Oculimacula yallundae
(species) D
beta-tubulin
Oculimacula yallundae
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula acuformis
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
GP00001822
TUB2
P02557
Physiology
Phe200Tyr
Oculimacula acuformis
(species)
Oculimacula acuformis
(species) D
beta-tubulin
Oculimacula acuformis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula acuformis
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001823
TUB2
P02557
Physiology
E198A
Oculimacula acuformis
(species)
Oculimacula acuformis
(species) D
beta-tubulin
Oculimacula acuformis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula acuformis
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001824
TUB2
P02557
Physiology
E198G
Oculimacula acuformis
(species)
Oculimacula acuformis
(species) D
beta-tubulin
Oculimacula acuformis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula acuformis
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001825
TUB2
P02557
Physiology
E198K
Oculimacula acuformis
(species)
Oculimacula acuformis
(species) D
beta-tubulin
Oculimacula acuformis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula yallundae
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001826
TUB2
P02557
Physiology
E198A
Oculimacula yallundae
(species)
Oculimacula yallundae
(species) D
beta-tubulin
Oculimacula yallundae
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula yallundae
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001827
TUB2
P02557
Physiology
E198G
Oculimacula yallundae
(species)
Oculimacula yallundae
(species) D
beta-tubulin
Oculimacula yallundae
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula yallundae
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001828
TUB2
P02557
Physiology
E198Q
Oculimacula yallundae
(species)
Oculimacula yallundae
(species) D
beta-tubulin
Oculimacula yallundae
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula yallundae
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001829
TUB2
P02557
Physiology
L240F
Oculimacula yallundae
(species)
Oculimacula yallundae
(species) D
beta-tubulin
Oculimacula yallundae
(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
beta-tubulin (ben4)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Aspergillus nidulans
(species) D
Intraspecific
Candidate Gene
Jung MK; Wilder IB; Oakley BR (1992)
Amino acid alterations in the benA (beta-tubulin) gene of Aspergillus nidulans that confer benomyl r[...]
1 Additional References
GP00001787
TUB2
P02557
Physiology
Phe200Tyr
Aspergillus nidulans
(species)
Aspergillus nidulans
(species) D
beta-tubulin (ben4)
Aspergillus nidulans
(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
BMP6
Tooth number
Cis-regulatory,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Cleves PA; Ellis NA; Jimenez MT ; et al. (2014)
Evolved tooth gain in sticklebacks is associated with a cis-regulatory allele of Bmp6.
2 Additional References
GP00000154
Bmp6
P20722
Morphology
Candidate enhancer of 190bp recapitulating tooth and fin expression of BMP6
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
BMP6
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
Brassinosteroid-deficient dwarf1 (brd1)
Plant size (height)
Unknown,
Unknown
Zea mays
(species)
Intraspecific
Linkage Mapping
Peiffer JA; Romay MC; Gore MA ; et al. (2014)
The genetic architecture of maize height.
GP00001628
ZEAMMB73_Zm00001d033180
A0A1D6KWT1
Morphology
On chromosome 1 two C>T transitions reduce plant height in 18RIL families
Zea mays
(species)
Zea mays
(species)
Brassinosteroid-deficient dwarf1 (brd1)
Zea mays
(species)
Published - Accepted by Curator
Brevis radix (BRX)
Root size (shorter)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Mouchel CF; Briggs GC; Hardtke CS (2004)
Natural genetic variation in Arabidopsis identifies BREVIS RADIX, a novel regulator of cell prolifer[...]
GP00000157
BRX
Q17TI5
Morphology
premature stop codon in exon 4; TGG>TGA; truncated protein missing approximately two-thirds of the C terminus N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Brevis radix (BRX)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Brevis radix (BRX)
pH tolerance (acidic soil)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Gujas B; Alonso-Blanco C; Hardtke CS (2012)
Natural Arabidopsis brx loss-of-function alleles confer root adaptation to acidic soil.
GP00001236
BRX
Q17TI5
Physiology
K188* (stop codon) N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Brevis radix (BRX)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Brevis radix (BRX)
Root growth
Coding,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Beuchat J; Li S; Ragni L ; et al. (2010)
A hyperactive quantitative trait locus allele of Arabidopsis BRX contributes to natural variation in[...]
GP00001262
BRX
Q17TI5
Morphology
21bp deletion at position in spacer 3 (position not given)
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Brevis radix (BRX)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
BTR1- Cadherin-like protein
Xenobiotic resistance (insecticide; Bt Cry1Ac)
Coding,
Unknown
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Linkage Mapping
Xu X; Yu L; Wu Y (2005)
Disruption of a cadherin gene associated with resistance to Cry1Ac {delta}-endotoxin of Bacillus thu[...]
GP00000160
BtR
Q19KJ3
Physiology
premature stop codon in exon 4; truncated protein missing approximately two-thirds of the C terminus N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
BTR1- Cadherin-like protein
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
BTR1- Cadherin-like protein
Xenobiotic resistance (insecticide)
Coding,
Insertion
N
Heliothis virescens
tobacco budworm - (species) D
Intraspecific
Linkage Mapping
Gahan LJ; Gould F; Heckel DG (2001)
Identification of a gene associated with Bt resistance in Heliothis virescens.
GP00000161
BtR
Q19KJ3
Physiology
Insertion of retrotransposon N
Heliothis virescens
tobacco budworm - (species)
Heliothis virescens
tobacco budworm - (species) D
BTR1- Cadherin-like protein
Heliothis virescens
tobacco budworm - (species)
Published - Accepted by Curator
BTR1- Cadherin-like protein
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
1 Additional References
GP00000162
BtR
Q19KJ3
Physiology
126bp in-frame deletion N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
BTR1- Cadherin-like protein
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
BTR1- Cadherin-like protein
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
1 Additional References
GP00000163
BtR
Q19KJ3
Physiology
202bp deletion N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
BTR1- Cadherin-like protein
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
BTR1- Cadherin-like protein
Xenobiotic resistance (insecticide)
Coding,
Deletion
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
1 Additional References
GP00000164
BtR
Q19KJ3
Physiology
24bp in-frame deletion
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
BTR1- Cadherin-like protein
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
BTR1- Cadherin-like protein
Xenobiotic resistance (insecticide)
Coding,
SNP
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Zhang H; Tian W; Zhao J ; et al. (2012)
Diverse genetic basis of field-evolved resistance to Bt cotton in cotton bollworm from China.
GP00000165
BtR
Q19KJ3
Physiology
E1266L R1268E and E1270V - whether each mutation has an effect or only one of them is unknown
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
BTR1- Cadherin-like protein
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
BvCPSF73-Ia
Bolting time
Coding,
Deletion
N
Beta vulgaris
(species) D
Intraspecific
Linkage Mapping
Tränkner C; Lemnian IM; Emrani N ; et al. (2016)
A Detailed Analysis of the BR Locus Suggests a New Mechanism for Bolting after Winter in Sugar Beet [...]
GP00001411
CPSF73-I
Q9C952
Physiology
2bp deletion causing a frameshift resulting in a two third truncated protein N
Beta vulgaris
(species)
Beta vulgaris
(species) D
BvCPSF73-Ia
Beta vulgaris
(species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide; Bt Cry1Ac)
Coding,
SNP
N
Helicoverpa punctigera
(species) D
Intraspecific
Candidate Gene
Walsh T; James B; Chakroun M ; et al. (2018)
Isolating, characterising and identifying a Cry1Ac resistance mutation in field populations of Helic[...]
GP00002055
BtR
Q19KJ3
Physiology
splice site GT mutated in GA so that splicing does not occur correctly and a 58 bp insertion is found in the cDNA sequence of the cadherin gene. This insertion disrupts the coding sequence in cadherin domain 9 causing a downstream frameshift and a premature stop codon for the rest of the protein. This would result in a truncated protein of 1243 amino acids without the putative binding domain; the membrane anchoring domain; presumably retained inside the cell and not exposed to the Cry1Ac; or alternatively; exported into the gut where it would be degraded N
Helicoverpa punctigera
(species)
Helicoverpa punctigera
(species) D
cadherin
Helicoverpa punctigera
(species)
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
catechol-O-methyltransferase (COMT)
Pain sensitivity
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Nackley AG; Shabalina SA; Tchivileva IE ; et al. (2006)
Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary[...]
GP00000171
COMT
P21964
Behavior
G/C - The synonymous mutation(s) affect mRNA stability and loop structures
Homo sapiens
human - (species)
Homo sapiens
human - (species)
catechol-O-methyltransferase (COMT)
Homo sapiens
human - (species)
Published - Accepted by Curator
Catecholamines up
Bristle number
Lifespan
Locomotor activity
Sleep
Coding,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Carbone MA; Jordan KW; Lyman RF ; et al. (2006)
Phenotypic variation and natural selection at catsup, a pleiotropic quantitative trait gene in Droso[...]
1 Additional References
GP00000172
Catsup
Q9V3A4
Morphology
Physiology
Behavior
Behavior
unknown; but most large-effect variants appear to be coding
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Catecholamines up
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
CBF gene cluster
Temperature tolerance (cold)
Unknown,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Gery C; Zuther E; Schulz E ; et al. (2011)
Natural variation in the freezing tolerance of Arabidopsis thaliana: effects of RNAi-induced CBF dep[...]
GP00000174
B1NSN2
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
CBF gene cluster
Arabidopsis thaliana
thale cress - (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
CCL3L1
Pathogen resistance (HIV)
Gene Amplification,
Indel
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Gonzalez E; Kulkarni H; Bolivar H ; et al. (2005)
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.
GP00000177
CCL3L1
P16619
Physiology
Copy number Variant
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
CCL3L1
Homo sapiens
human - (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
Chalcone synthase D (CHS-D)
Coloration (flower)
Unknown,
Insertion
Ipomoea purpurea
common morning-glory - (species) D
Intraspecific
Candidate Gene
Habu Y; Hisatomi Y; Iida S (1998)
Molecular characterization of the mutable flaked allele for flower variegation in the common morning[...]
GP00001459
CHSD
O22045
Morphology
insertion of a 3.9kb long transposable element Tip100 in intron
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
Chalcone synthase D (CHS-D)
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
Chalcone synthase D (CHS-D)
Coloration (flower)
Unknown,
Insertion
Ipomoea purpurea
common morning-glory - (species) D
Intraspecific
Candidate Gene
Habu Y; Hisatomi Y; Iida S (1998)
Molecular characterization of the mutable flaked allele for flower variegation in the common morning[...]
GP00001460
CHSD
O22045
Morphology
2 insertions of Tip100 in opposite orientation at different sites within the same intron
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
Chalcone synthase D (CHS-D)
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
Chalk5
Grain chalkiness
Amylose content
Grain yield
Cis-regulatory,
SNP
Oryza sativa
rice - (species)
Intraspecific
Linkage Mapping
Li Y; Fan C; Xing Y ; et al. (2014)
Chalk5 encodes a vacuolar H(+)-translocating pyrophosphatase influencing grain chalkiness in rice.
GP00001309
Chalk5
A2Y0L3
Morphology
Physiology
Physiology
Two candidate SNPs at positions -721 and - 485 in promoter region
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Chalk5
Oryza sativa
rice - (species)
Published - Accepted by Curator
Chitin synthase 1 (CHS1)
Xenobiotic resistance (insecticide) (benzoylurea)
Coding,
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Candidate Gene
Douris V; Steinbach D; Panteleri R ; et al. (2016)
Resistance mutation conserved between insects and mites unravels the benzoylurea insecticide mode of[...]
GP00001600
CHS1
A3KCN0
Physiology
T>G p.I1042M (I1056 in D. melanogaster) located in the C-terminal transmembrane domain
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
Chitin synthase 1 (CHS1)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
Chitin synthase 1 (CHS1)
Xenobiotic resistance (insecticide; benzoylurea)
Coding,
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Candidate Gene
Douris V; Steinbach D; Panteleri R ; et al. (2016)
Resistance mutation conserved between insects and mites unravels the benzoylurea insecticide mode of[...]
GP00001601
CHS1
A3KCN0
Physiology
A>T p.I1042F (I1056 in D. melanogaster) located in the C-terminal transmembrane domain
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
Chitin synthase 1 (CHS1)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
Chitin synthase 1 (CHS1)
Xenobiotic resistance (insecticide; etoxazole acaricide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species)
Intraspecific
Linkage Mapping
Demaeght P; Osborne EJ; Odman-Naresh J ; et al. (2014)
High resolution genetic mapping uncovers chitin synthase-1 as the target-site of the structurally di[...]
1 Additional References
GP00001602
chs1
H9U0G2
Physiology
A>T p.I1017F (I1056 in D. melanogaster) located in the C-terminal transmembrane domain
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species)
Chitin synthase 1 (CHS1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
CHKov1
Pathogen resistance
Xenobiotic resistance (insecticide)
Coding,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Magwire MM; Bayer F; Webster CL ; et al. (2011)
Successive increases in the resistance of Drosophila to viral infection through a transposon inserti[...]
1 Additional References
GP00000182
CHKov1
Q961V7
Physiology
Physiology
Insertion of a Doc TE element resulting in novel; seemingly functional short protein
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
CHKov1
Drosophila melanogaster
fruit fly - (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
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
cortex
Coloration (wing ; industrial melanism ; camouflage)
Cis-regulatory,
Insertion
Biston betularia
pepper-and-salt moth - (species) D
Intraspecific
Linkage Mapping
Van't Hof AE; Campagne P; Rigden DJ ; et al. (2016)
The industrial melanism mutation in British peppered moths is a transposable element.
GP00001804
cort
Q960N3
Morphology
Putative transposon insertion within the first intron ; consists of of ~9 kb tandemly repeated 2.3 times + three short tandem subrepeat units
Biston betularia
pepper-and-salt moth - (species)
Biston betularia
pepper-and-salt moth - (species) D
cortex
Biston betularia
pepper-and-salt moth - (species)
Published - Accepted by Curator
cortex
Coloration (wing ; Mullerian mimicry)
Unknown,
Unknown
Heliconius melpomene
postman butterfly - (species)
Intraspecific
Linkage Mapping
Nadeau NJ; Pardo-Diaz C; Whibley A ; et al. (2016)
The gene cortex controls mimicry and crypsis in butterflies and moths.
3 Additional References
GP00001805
cort
Q960N3
Morphology
Spread-out signals of selection suggest a complex cis-regulatory architecture
Heliconius melpomene
postman butterfly - (species)
Heliconius melpomene
postman butterfly - (species)
cortex
Heliconius melpomene
postman butterfly - (species)
Published - Accepted by Curator
Couch potato
Diapause
Coding,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Schmidt PS; Zhu CT; Das J ; et al. (2008)
An amino acid polymorphism in the couch potato gene forms the basis for climatic adaptation in Droso[...]
GP00000191
cpo
Q01617
Physiology
Ile462Lys
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Couch potato
Drosophila melanogaster
fruit fly - (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) EDI allele
Flowering time
Fruit shape (fruit length)
Flower morphology (ovule number per fruit)
Fertility (percentage of unfertilized ovules)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
El-Din El-Assal S; Alonso-Blanco C; Peeters AJ ; et al. (2001)
A QTL for flowering time in Arabidopsis reveals a novel allele of CRY2.
3 Additional References
GP00000192
CRY2
Q96524
Physiology
Morphology
Morphology
Physiology
V367M
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Cryptochrome 2 (CRY2) EDI allele
Arabidopsis thaliana
thale cress - (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
CYC-like HaCYC2c
Flower morphology
Cis-regulatory,
Insertion
Helianthus annuus
common sunflower - (species) D
Intraspecific
Linkage Mapping
Chapman MA; Tang S; Draeger D ; et al. (2012)
Genetic analysis of floral symmetry in Van Gogh's sunflowers reveals independent recruitment of CYCL[...]
GP00000193
CYC
O49250
Morphology
999bp insertion in promoter
Helianthus annuus
common sunflower - (species)
Helianthus annuus
common sunflower - (species) D
CYC-like HaCYC2c
Helianthus annuus
common sunflower - (species)
Published - Accepted by Curator
CYC-like RAY1/RAY2
Flower morphology
Gene Amplification,
Complex Change
Senecio vulgaris
(species)
Intraspecific
Linkage Mapping
Kim M; Cui ML; Cubas P ; et al. (2008)
Regulatory genes control a key morphological and ecological trait transferred between species.
GP00000194
CYC
O49250
Morphology
Gene gain by hybridization
Senecio vulgaris
(species)
Senecio vulgaris
(species)
CYC-like RAY1/RAY2
Senecio vulgaris
(species)
Published - Accepted by Curator
CYCD5;1
Endoreduplication
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Sterken R; Kiekens R; Boruc J ; et al. (2012)
Combined linkage and association mapping reveals CYCD5;1 as a quantitative trait gene for endoredupl[...]
GP00000196
CYCD5-1
Q2V3B2
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
CYCD5;1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Cycloidea (Lcyc)
Flower morphology
Cis-regulatory,
Epigenetic Change
Linaria vulgaris
common toadflax - (species) D
Intraspecific
Linkage Mapping
Cubas P; Vincent C; Coen E (1999)
An epigenetic mutation responsible for natural variation in floral symmetry.
GP00000197
CYC
O49250
Morphology
Stable methylation
Linaria vulgaris
common toadflax - (species)
Linaria vulgaris
common toadflax - (species) D
Cycloidea (Lcyc)
Linaria vulgaris
common toadflax - (species)
Published - Accepted by Curator
CYP(T)
Flower morphology (style length)
Coding,
Insertion
N
Primula vulgaris
(species) D
Intraspecific
Linkage Mapping
Li J; Cocker JM; Wright J ; et al. (2016)
Genetic architecture and evolution of the S locus supergene in Primula vulgaris.
GP00001394
CYP734A1
O48786
Morphology
single base insertion in exon 2 introduces a disruptive premature stop codon N
Primula vulgaris
(species)
Primula vulgaris
(species) D
CYP(T)
Primula vulgaris
(species)
Published - Accepted by Curator
CYP(T)
Flower morphology (style length)
Coding,
SNP
Primula vulgaris
(species) D
Intraspecific
Linkage Mapping
Li J; Cocker JM; Wright J ; et al. (2016)
Genetic architecture and evolution of the S locus supergene in Primula vulgaris.
GP00001395
CYP734A1
O48786
Morphology
G>C p.Asp126His in exon 2
Primula vulgaris
(species)
Primula vulgaris
(species) D
CYP(T)
Primula vulgaris
(species)
Published - Accepted by Curator
Cyp12d1
Xenobiotic resistance (caffeine tolerance)
Gene Amplification,
Insertion
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Najarro MA; Hackett JL; Smith BR ; et al. (2015)
Identifying Loci Contributing to Natural Variation in Xenobiotic Resistance in Drosophila.
GP00000198
Cyp12d1-d
Q7KR10
Physiology
Copy number Variant
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Cyp12d1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
CYP1A2
Enzymatic activity
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Murayama N; Soyama A; Saito Y ; et al. (2004)
Six novel nonsynonymous CYP1A2 gene polymorphisms: catalytic activities of the naturally occurring v[...]
GP00000199
CYP1A2
P05177
Physiology
F186L
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
CYP1A2
Homo sapiens
human - (species)
Published - Accepted by Curator
Cyp28d1
Xenobiotic resistance (nicotine ; larval stage)
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Chakraborty M; VanKuren NW; Zhao R ; et al. (2018)
Hidden genetic variation shapes the structure of functional elements in Drosophila.
2 Additional References
GP00001407
Cyp28d1
Q9VMT5
Physiology
partial 1.5kb Accord element ; possibly a driver of nicotine-sensitive expression ; the resistant strain also has a gene tandem duplication (CNV) that may play complementary role in resistance levels
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Cyp28d1
Drosophila melanogaster
fruit fly - (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
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
CYP6AB3
Xenobiotic resistance (imperatorin)
Coding,
SNP
Depressaria pastinacella
(species)
Intraspecific
Candidate Gene
Mao W; Rupasinghe SG; Zangerl AR ; et al. (2007)
Allelic variation in the Depressaria pastinacella CYP6AB3 protein enhances metabolism of plant allel[...]
GP00000204
CYP6AB3
Q7YZS3
Physiology
Ala92Val (and potentiallly 4 other a.a. substitutions)
Depressaria pastinacella
(species)
Depressaria pastinacella
(species)
CYP6AB3
Depressaria pastinacella
(species)
Published - Accepted by Curator
CYP6BG1
Xenobiotic resistance (insecticide)
Unknown,
Unknown
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Mallott M; Hamm S; Troczka BJ ; et al. (2019)
A flavin-dependent monooxgenase confers resistance to chlorantraniliprole in the diamondback moth, P[...]
GP00002064
CYP6BG1
A0A222NX20
Physiology
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
CYP6BG1
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
CYP6CY3
Xenobiotic resistance (nicotine and nicotinoid insecticides) and host plant
Gene Amplification,
Insertion
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Bass C; Zimmer CT; Riveron JM ; et al. (2013)
Gene amplification and microsatellite polymorphism underlie a recent insect host shift.
GP00001473
CYP6CY3
V5SQ25
Physiology
gene amplification (from 2 to 14-100 copies)
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
CYP6CY3
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
CYP6CY3
Xenobiotic resistance (nicotine and nicotinoid insecticides) and host plant
Cis-regulatory,
Insertion
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Bass C; Zimmer CT; Riveron JM ; et al. (2013)
Gene amplification and microsatellite polymorphism underlie a recent insect host shift.
GP00001474
CYP6CY3
V5SQ25
Physiology
Expansion of a AC dinucleotide microsatellite (from 15 to 48 repeat units) in the promoter 198 bp upstream of the start codon that enhances gene expression
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
CYP6CY3
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
cyp6d2
Xenobiotic resistance (chemotherapeutic agent, camptothecin)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Thomas AM; Hui C; South A ; et al. (2013)
Common variants of Drosophila melanogaster Cyp6d2 cause camptothecin sensitivity and synergize with [...]
GP00001983
Cyp6g2
Q9V675
Physiology
G>C in CATAGgtaagga...caagCTCT so that intron 3 is not spliced and the codon GCT (spanning the intron) is transformed into CCT. The splicing is defective and intron 3 is transcribed and results in a stop codon and a protein truncated from its native C terminal part.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
cyp6d2
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
cyp6d2
Xenobiotic resistance (chemotherapeutic agent, camptothecin)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Thomas AM; Hui C; South A ; et al. (2013)
Common variants of Drosophila melanogaster Cyp6d2 cause camptothecin sensitivity and synergize with [...]
GP00001984
Cyp6g2
Q9V675
Physiology
N438T (A22652974C) and N439T (A22652978G) - exact causing mutation(s) not identified - semiquantitative RT-PCR revealed that this mutant produces little to no Cyp6d2 transcript. The mutation is thus also cis-regulatory.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
cyp6d2
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
cyp6g1
Xenobiotic resistance (insecticide)
4 Mutations:
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Chung H; Bogwitz MR; McCart C ; et al. (2007)
Cis-regulatory elements in the Accord retrotransposon result in tissue-specific expression of the Dr[...]
GP00000207
Cyp6g1
Q9V674
Physiology
4 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
cyp6g1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
cyp6g1
Xenobiotic resistance (insecticide)
Cis-regulatory,
Insertion
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Schlenke TA; Begun DJ (2004)
Strong selective sweep associated with a transposon insertion in Drosophila simulans.
GP00002019
Cyp6g1
Q9V674
Physiology
insertion of a Doc transposable element around 200 bp upstream of the putative transcription start site - mutation associated with increased expression of the gene
Drosophila simulans
(species)
Drosophila simulans
(species) D
cyp6g1
Drosophila simulans
(species)
Published - Accepted by Curator
cyp6g1
Xenobiotic resistance (insecticide)
Cis-regulatory,
Insertion
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Wurmser F; Mary-Huard T; Daudin JJ ; et al. (2013)
Variation of gene expression associated with colonisation of an anthropized environment: comparison [...]
GP00002020
Cyp6g1
Q9V674
Physiology
insertion of a Juan transposable element in the regulatory sequence. The insertion is almost fixed in the Rhône Valley but barely present in Mayotte - mutation associated with increased expression of the gene
Drosophila simulans
(species)
Drosophila simulans
(species) D
cyp6g1
Drosophila simulans
(species)
Published - Accepted by Curator
CYP6P9 cluster (CYP6P9a and CYP6P9b)
Xenobiotic resistance (insecticide)
Unknown,
Unknown
Anopheles funestus
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Riveron JM; Irving H; Ndula M ; et al. (2013)
Directionally selected cytochrome P450 alleles are driving the spread of pyrethroid resistance in th[...]
GP00000208
CYP2C9
P11712
Physiology
unknown but strong evidence of directional selection at these genes correlated with elevated expression
Anopheles funestus
African malaria mosquito - (species)
Anopheles funestus
African malaria mosquito - (species) D
CYP6P9 cluster (CYP6P9a and CYP6P9b)
Anopheles funestus
African malaria mosquito - (species)
Published - Accepted by Curator
CYP6P9; CYP6P4 cluster
Xenobiotic resistance (insecticide)
Cis-regulatory,
Unknown
Anopheles funestus
African malaria mosquito - (species) D
Intraspecific
Linkage Mapping
Wondji CS; Irving H; Morgan J ; et al. (2009)
Two duplicated P450 genes are associated with pyrethroid resistance in Anopheles funestus, a major m[...]
GP00000209
Q2YH43
Physiology
unknown; but 10-30 fold differences in expression levels between phenotypes
Anopheles funestus
African malaria mosquito - (species)
Anopheles funestus
African malaria mosquito - (species) D
CYP6P9; CYP6P4 cluster
Anopheles funestus
African malaria mosquito - (species)
Published - Accepted by Curator
CYP79D15
Toxicity levels (cyanogenic glucoside)
Gene Loss,
Deletion
N
Trifolium repens
white clover - (species) D
Intraspecific
Linkage Mapping
Olsen KM; Hsu SC; Small LL (2008)
Evidence on the molecular basis of the Ac/ac adaptive cyanogenesis polymorphism in white clover (Tri[...]
1 Additional References
GP00000211
CYP79D15
B2Y2T9
Physiology
Gene deletion N
Trifolium repens
white clover - (species)
Trifolium repens
white clover - (species) D
CYP79D15
Trifolium repens
white clover - (species)
Published - Accepted by Curator
CYP81F2
Glucosinolate content
Herbivore resistance (aphids)
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Pfalz M; Vogel H; Kroymann J (2009)
The gene controlling the indole glucosinolate modifier1 quantitative trait locus alters indole gluco[...]
GP00000212
CYP81F2
Q9LVD6
Physiology
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
CYP81F2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting; famoxadone)
Coding,
SNP
Plasmopara viticola
(species) D
Intraspecific
Candidate Gene
Chen WJ; Delmotte F; Richard-Cervera S ; et al. (2007)
At least two origins of fungicide resistance in grapevine downy mildew populations.
GP00002041
UQCRFS1
P47985
Physiology
Gly143Ala G1256C
Plasmopara viticola
(species)
Plasmopara viticola
(species) D
cytochrome b
Plasmopara viticola
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting; famoxadone)
Coding,
SNP
Plasmopara viticola
(species) D
Intraspecific
Candidate Gene
Chen WJ; Delmotte F; Richard-Cervera S ; et al. (2007)
At least two origins of fungicide resistance in grapevine downy mildew populations.
GP00002042
UQCRFS1
P47985
Physiology
Gly143Ala G1256C
Plasmopara viticola
(species)
Plasmopara viticola
(species) D
cytochrome b
Plasmopara viticola
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; myxothiazol)
Coding,
SNP
Chlamydomonas reinhardtii
(species) D
Intraspecific
Candidate Gene
Bennoun P; Delosme M; Kück U (1991)
Mitochondrial genetics of Chlamydomonas reinhardtii: resistance mutations marking the cytochrome b g[...]
GP00002043
UQCRFS1
P47985
Physiology
F129L
Chlamydomonas reinhardtii
(species)
Chlamydomonas reinhardtii
(species) D
cytochrome b
Chlamydomonas reinhardtii
(species)
Published - Accepted by Curator
cytochrome c oxidase (COX7A)
Fertility
Lifespan
Locomotor activity
Coding,
Deletion
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Melvin RG; Katewa SD; Ballard JW (2008)
A candidate complex approach to study functional mitochondrial DNA changes: sequence variation and q[...]
1 Additional References
GP00001980
COX7A
Q9VHS2
Physiology
Physiology
Physiology
Deletion of two amino acids (Trp85 and Val86). The deletion occurs in subunit 7A of the mitochondrial electron trans-port chain protein cytochrome c oxidase (cox7A). The nuclear encoded cox7A gene produces a protein that isimported into the mitochondrion and forms a subunit of complexIV (cytochrome c oxidase) of the electron transport chain.
Drosophila simulans
(species)
Drosophila simulans
(species) D
cytochrome c oxidase (COX7A)
Drosophila simulans
(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
Dca (=smp-30)
Wing size
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Lee SF; Chen Y; Varan AK ; et al. (2011)
Molecular basis of adaptive shift in body size in Drosophila melanogaster: functional and sequence a[...]
1 Additional References
GP00000214
smp-30
Q9VFG5
Morphology
Non-coding
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Dca (=smp-30)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Delta
Bristle number (abdomen)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Long AD; Lyman RF; Langley CH ; et al. (1998)
Two sites in the Delta gene region contribute to naturally occurring variation in bristle number in [...]
1 Additional References
GP00000216
Dl
P10041
Morphology
unknown; associated site in intron 5
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Delta
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Delta
Bristle number (thorax)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Long AD; Lyman RF; Langley CH ; et al. (1998)
Two sites in the Delta gene region contribute to naturally occurring variation in bristle number in [...]
1 Additional References
GP00000217
Dl
P10041
Morphology
unknown; associated site in intron 2
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Delta
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Delta-1-pyrroline-5-carboxylate synthase A
Drought response (drought-induced proline accumulation)
2 Mutations:
Coding
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Kesari R; Lasky JR; Villamor JG ; et al. (2012)
Intron-mediated alternative splicing of Arabidopsis P5CS1 and its association with natural variation[...]
GP00001280
P5CSA
P54887
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Delta-1-pyrroline-5-carboxylate synthase A
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
desaturase 2 (desat2)
Pheromone production
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Takahashi A; Tsaur SC; Coyne JA ; et al. (2001)
The nucleotide changes governing cuticular hydrocarbon variation and their evolution in Drosophila m[...]
1 Additional References
GP00000221
Desat2
Q9VG68
Physiology
16bp deletion about 150bp upstream of transcription start site
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
desaturase 2 (desat2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Dihydroflavonol 4 reductase (MlDfr)
Coloration (flower)
Coding,
Insertion
N
Erythranthe lewisii
(species) D
Intraspecific
Candidate Gene
Wu CA; Streisfeld MA; Nutter LI ; et al. (2013)
The genetic basis of a rare flower color polymorphism in Mimulus lewisii provides insight into the r[...]
GP00001457
DFRA
P51102
Morphology
A 2 nt (TG) insertion at position 265 causing a frameshift and a greatly truncated protein of 106 aa only about one-fourth of its functional length N
Erythranthe lewisii
(species)
Erythranthe lewisii
(species) D
Dihydroflavonol 4 reductase (MlDfr)
Erythranthe lewisii
(species)
Published - Accepted by Curator
dihydroflavonol reductase (DFR)
Coloration (flowers)
Coding,
Deletion
Iochroma calycinum
(species) D
Intraspecific
Candidate Gene
Coburn RA; Griffin RH; Smith SD (2015)
Genetic basis for a rare floral mutant in an Andean species of Solanaceae.
GP00000224
DFRA
P51102
Morphology
33bp (11 a.a) deletion In coding sequence
Iochroma calycinum
(species)
Iochroma calycinum
(species) D
dihydroflavonol reductase (DFR)
Iochroma calycinum
(species)
Published - Accepted by Curator
dihydroflavonol reductase (DFR)
Coloration (flowers)
Coding,
SNP
Iochroma cyaneum
(species)
Intraspecific
Linkage Mapping
Smith SD; Rausher MD (2011)
Gene loss and parallel evolution contribute to species difference in flower color.
GP00000225
DFRA
P51102
Morphology
12 candidate a.a. substitution in cluding one at a residue known to influence substrate specificity
Iochroma cyaneum
(species)
Iochroma cyaneum
(species)
dihydroflavonol reductase (DFR)
Iochroma cyaneum
(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
Diptericin
Pathogen resistance (bacteria)
Coding,
SNP
Drosophila simulans
(species)
Intraspecific
Candidate Gene
Unckless RL; Howick VM; Lazzaro BP (2016)
Convergent Balancing Selection on an Antimicrobial Peptide in Drosophila.
1 Additional References
GP00000228
DptA
P24492
Physiology
Ser>Arg (AGC>AGG)
Drosophila simulans
(species)
Drosophila simulans
(species)
Diptericin
Drosophila simulans
(species)
Published - Accepted by Curator
Distorter on the X (Dox)
Sex determination (sex ratio distortion)
Coding,
Deletion
Drosophila simulans
(species) D
Intraspecific
Linkage Mapping
Tao Y; Araripe L; Kingan SB ; et al. (2007)
A sex-ratio meiotic drive system in Drosophila simulans. II: an X-linked distorter.
GP00001969
Physiology
Deletion of 105bp, resulting in the loss of exon III, which deletes one of the 42bp elements that is tandemly repeated in wild-type Dsim\Dox.
Drosophila simulans
(species)
Drosophila simulans
(species) D
Distorter on the X (Dox)
Drosophila simulans
(species)
Published - Accepted by Curator
DOG1 (DELAY OF GERMINATION 1)
Seed dormancy
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Bentsink L; Jowett J; Hanhart CJ ; et al. (2006)
Cloning of DOG1, a quantitative trait locus controlling seed dormancy in Arabidopsis.
3 Additional References
GP00000231
DOG1
A0SVK0
Physiology
Not identified (possibly polyallelic as each cross to the Ler accession showed different DOG1 effects)
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
DOG1 (DELAY OF GERMINATION 1)
Arabidopsis thaliana
thale cress - (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
Dopa oxidase-3 (Dox-3)
Enzymatic activity
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Asada N (1997)
Genetic variants affecting phenoloxidase activity in Drosophila melanogaster.
GP00002000
Physiology
Exact causing mutation(s) unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Dopa oxidase-3 (Dox-3)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Dopa-decarboxylase
Bristle number (abdomen)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Mackay TF; Lyman RF (2005)
Drosophila bristles and the nature of quantitative genetic variation.
GP00000232
Ddc
P05031
Morphology
Promoter variation
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Dopa-decarboxylase
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Dopa-decarboxylase
Lifespan
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
De Luca M; Roshina NV; Geiger-Thornsberry GL ; et al. (2003)
Dopa decarboxylase (Ddc) affects variation in Drosophila longevity.
GP00000233
Ddc
P05031
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Dopa-decarboxylase
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Doublesex
Coloration (wing ; Batesian mimicry)
Unknown,
Unknown
Papilio polytes
common Mormon - (species)
Intraspecific
Linkage Mapping
Kunte K; Zhang W; Tenger-Trolander A ; et al. (2014)
doublesex is a mimicry supergene.
2 Additional References
GP00001966
dsx
P23023
Morphology
More than 1000 nucleotide substitutions differentiate mimetic and non-mimetic dsx alleles. The non-mimetic Cyrus Dsx protein folds much like other insects (such as Bombyx mori) whereas the mimetic polytes protein structure is highly divergent. Knockdown experiments show that female-specific dsx isoforms expressed from the inverted H allele (dsx(H)) induce mimetic coloration patterns and simultaneously repress non-mimetic patterns.
Papilio polytes
common Mormon - (species)
Papilio polytes
common Mormon - (species)
Doublesex
Papilio polytes
common Mormon - (species)
Published - Accepted by Curator
Doublesex
Coloration (wing ; Batesian mimicry)
Unknown,
Unknown
Papilio memnon
(species)
Intraspecific
Candidate Gene
Iijima T; Kajitani R; Komata S ; et al. (2018)
Parallel evolution of Batesian mimicry supergene in two Papilio butterflies, P. polytes and P. memno[...]
1 Additional References
GP00001967
dsx
P23023
Morphology
A locus containing three genes (dsx; Nach-like and UXT) displays dimorphic sequences strictly associated with the mimetic/nonmimetic phenotypes. Expression of dox; UXT but not Nach-like showed differences correlated with phenotype in female hind wings.
Papilio memnon
(species)
Papilio memnon
(species)
Doublesex
Papilio memnon
(species)
Published - Accepted by Curator
drh-1
Pathogen resistance (viral immunity)
Coding,
Deletion
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Ashe A; Bélicard T; Le Pen J ; et al. (2013)
A deletion polymorphism in the Caenorhabditis elegans RIG-I homolog disables viral RNA dicing and an[...]
GP00001308
drh-1
G5EDI8
Physiology
159 base deletion in CDS resulting in truncated but potentially non-null protein
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
drh-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Drip
Fertility
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Bergland AO; Chae HS; Kim YJ ; et al. (2012)
Fine-scale mapping of natural variation in fly fecundity identifies neuronal domain of expression an[...]
GP00000237
Drip
Q9V5Z7
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Drip
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Duffy
Pathogen resistance (Plasmodium; malaria parasite) (malaria)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Tournamille C; Colin Y; Cartron JP ; et al. (1995)
Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-n[...]
GP00000240
ACKR1
Q16570
Physiology
T to C substitution in 5' region at pos -46
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Duffy
Homo sapiens
human - (species)
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
EARLY FLOWERING 3(ELF3)
Flowering time
Coding,
Indel
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Jiménez-Gómez JM; Wallace AD; Maloof JN (2010)
Network analysis identifies ELF3 as a QTL for the shade avoidance response in Arabidopsis.
3 Additional References
GP00000244
ELF3
O82804
Physiology
Background-dependent effects of extensive polyQ coding variation
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
EARLY FLOWERING 3(ELF3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
EARLY FLOWERING 3(ELF3) [possible pseudo-replicate]
Plant growth (hypocotyl elongation ; temperature-dependent)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Raschke A; Ibañez C; Ullrich KK ; et al. (2015)
Natural variants of ELF3 affect thermomorphogenesis by transcriptionally modulating PIF4-dependent a[...]
GP00001245
ELF3
O82804
Morphology
A362V
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
EARLY FLOWERING 3(ELF3) [possible pseudo-replicate]
Arabidopsis thaliana
thale cress - (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
ebony
Coloration (abdomen)
Cis-regulatory,
Unknown
Drosophila novamexicana
(species) D
Intraspecific
Linkage Mapping
Wittkopp PJ; Stewart EE; Arnold LL ; et al. (2009)
Intraspecific polymorphism to interspecific divergence: genetics of pigmentation in Drosophila.
GP00000248
e
O76858
Morphology
Not identified
Drosophila americana
(species)
Drosophila novamexicana
(species) D
ebony
Drosophila novamexicana
(species)
Published - Accepted by Curator
ebony
Coloration (thorax)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Takahashi A; Takahashi K; Ueda R ; et al. (2007)
Natural variation of ebony gene controlling thoracic pigmentation in Drosophila melanogaster.
GP00000249
e
O76858
Morphology
Not identified
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
ebony
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
ebony
Coloration (posterior abdomen)
Cis-regulatory,
Unknown
Drosophila auraria
(species) D
Intraspecific
Candidate Gene
Johnson WC; Ordway AJ; Watada M ; et al. (2015)
Genetic Changes to a Transcriptional Silencer Element Confers Phenotypic Diversity within and betwee[...]
GP00000250
e
O76858
Morphology
Inactivation of a conserved silencer resulting in gain-of-expression; the increase in ebony expression in the light strain occurred primarily through mutations affecting the ebony male-specific silencer element
Drosophila auraria
(species)
Drosophila auraria
(species) D
ebony
Drosophila auraria
(species)
Published - Accepted by Curator
ebony
Coloration (posterior abdomen)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Takahashi A; Takano-Shimizu T (2011)
Divergent enhancer haplotype of ebony on inversion In(3R)Payne associated with pigmentation variatio[...]
GP00000252
e
O76858
Morphology
17 nucleotide sites and 2 indels in complete association with the thoracic trident pigmentation intensity in a 13kb region
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
ebony
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
ebony
Coloration (posterior abdomen)
5 Mutations:
Cis-regulatory
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Rebeiz M; Pool JE; Kassner VA ; et al. (2009)
Stepwise modification of a modular enhancer underlies adaptation in a Drosophila population.
GP00000253
e
O76858
Morphology
5 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
ebony
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
ebony
Coloration (male-specific)
Cis-regulatory,
SNP
Drosophila malerkotliana
(species)
Intraspecific
Linkage Mapping
Signor SA; Liu Y; Rebeiz M ; et al. (2016)
Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.
GP00001544
e
O76858
Morphology
5 changes including 4 SNP and 1bp indel in the first intron
Drosophila malerkotliana
(species)
Drosophila malerkotliana
(species)
ebony
Drosophila malerkotliana
(species)
Published - Accepted by Curator
ebony
Coloration (male-specific)
Cis-regulatory,
Unknown
Drosophila pseudoananassae
(species)
Intraspecific
Linkage Mapping
Signor SA; Liu Y; Rebeiz M ; et al. (2016)
Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.
GP00001545
e
O76858
Morphology
unknown
Drosophila pseudoananassae
(species)
Drosophila pseudoananassae
(species)
ebony
Drosophila pseudoananassae
(species)
Published - Accepted by Curator
Ectodysplasin (EDA)
Scales (loss)
Femoral glands (absent)
Tooth number
Coding,
Insertion
Pogona vitticeps
central bearded dragon - (species) D
Intraspecific
Candidate Gene
Di-Poï N; Milinkovitch MC (2016)
The anatomical placode in reptile scale morphogenesis indicates shared ancestry among skin appendage[...]
GP00002040
Eda
O54693
Morphology
Morphology
Morphology
5′688–bp insertion of a transposon of the LTR-Gypsy family which generates a new splice donor site (gt) 42 bases upstream of the wild-type donor site; thus generating a 14–amino acid deletion in the corresponding transcript
Pogona vitticeps
central bearded dragon - (species)
Pogona vitticeps
central bearded dragon - (species) D
Ectodysplasin (EDA)
Pogona vitticeps
central bearded dragon - (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
EGFR
Wing Shape
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Dworkin I; Palsson A; Gibson G (2005)
Replication of an Egfr-wing shape association in a wild-caught cohort of Drosophila melanogaster.
1 Additional References
GP00000259
Egfr
P04412
Morphology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
EGFR
Drosophila melanogaster
fruit fly - (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
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
END3
Temperature tolerance
Virulence
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Steinmetz LM; Sinha H; Richards DR ; et al. (2002)
Dissecting the architecture of a quantitative trait locus in yeast.
1 Additional References
GP00000267
END3
P39013
Physiology
Physiology
S258N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
END3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
END3
Temperature tolerance
Virulence
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Steinmetz LM; Sinha H; Richards DR ; et al. (2002)
Dissecting the architecture of a quantitative trait locus in yeast.
1 Additional References
GP00000268
END3
P39013
Physiology
Physiology
D268N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
END3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Enhanced shoot growth under mannitol stress 2 (EGM2)
Plant growth (shoot growth under stress)
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Trontin C; Kiani S; Corwin JA ; et al. (2014)
A pair of receptor-like kinases is responsible for natural variation in shoot growth response to man[...]
GP00001630
At1g11300
Q9SXB4
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Enhanced shoot growth under mannitol stress 2 (EGM2)
Arabidopsis thaliana
thale cress - (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
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
Epithiospecifier Modifier1 (ESM1)
Nitrile content
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Zhang Z; Ober JA; Kliebenstein DJ (2006)
The gene controlling the quantitative trait locus EPITHIOSPECIFIER MODIFIER1 alters glucosinolate hy[...]
GP00000277
ESM1
Q9LJG3
Physiology
Not identified
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Epithiospecifier Modifier1 (ESM1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Epithiospecifier protein (ESP)
Plant secondary metabolite (glucosinolate)
Herbivore resistance
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Lambrix V; Reichelt M; Mitchell-Olds T ; et al. (2001)
The Arabidopsis epithiospecifier protein promotes the hydrolysis of glucosinolates to nitriles and i[...]
GP00000278
ESP
Q8RY71
Physiology
Physiology
Not identified
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Epithiospecifier protein (ESP)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Epithiospecifier protein (ESP)
Plant secondary metabolite (glucosinolate)
Herbivore resistance
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Lambrix V; Reichelt M; Mitchell-Olds T ; et al. (2001)
The Arabidopsis epithiospecifier protein promotes the hydrolysis of glucosinolates to nitriles and i[...]
GP00000279
ESP
Q8RY71
Physiology
Physiology
deletion of 124 bases that eliminates a splice site and 100 nucleotides of the ORF N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Epithiospecifier protein (ESP)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Gene Amplification,
Insertion
Amaranthus palmeri
(species) D
Intraspecific
Candidate Gene
Gaines TA; Zhang W; Wang D ; et al. (2010)
Gene amplification confers glyphosate resistance in Amaranthus palmeri.
GP00001883
At2g45300
P05466
Physiology
Genomes of resistant plants contain from 5-fold to more than 160-fold more copies of the EPSPS gene than did genomes of susceptible plants - the duplicated section of DNA including the 10 kb EPSPS gene is at least 30 kb long
Amaranthus palmeri
(species)
Amaranthus palmeri
(species) D
EPSPS
Amaranthus palmeri
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Gene Amplification,
Insertion
Amaranthus tuberculatus
(species) D
Intraspecific
Candidate Gene
Tranel PJ; Riggins CW; Bell MS ; et al. (2011)
Herbicide resistances in Amaranthus tuberculatus: a call for new options.
GP00001884
At2g45300
P05466
Physiology
4 copies of the EPSPS gene
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
EPSPS
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Gene Amplification,
Insertion
Lolium multiflorum
Italian ryegrass - (species) D
Intraspecific
Candidate Gene
Salas RA; Dayan FE; Pan Z ; et al. (2012)
EPSPS gene amplification in glyphosate-resistant Italian ryegrass (Lolium perenne ssp. multiflorum) [...]
GP00001885
At2g45300
P05466
Physiology
15-25 copies of the EPSPS gene
Lolium multiflorum
Italian ryegrass - (species)
Lolium multiflorum
Italian ryegrass - (species) D
EPSPS
Lolium multiflorum
Italian ryegrass - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Gene Amplification,
Insertion
Bassia scoparia
(species) D
Intraspecific
Candidate Gene
Sammons RD; Gaines TA (2014)
Glyphosate resistance: state of knowledge.
GP00001886
At2g45300
P05466
Physiology
15-25 copies of the EPSPS gene
Bassia scoparia
(species)
Bassia scoparia
(species) D
EPSPS
Bassia scoparia
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Gene Amplification,
Insertion
Amaranthus spinosus
(species) D
Intraspecific
Candidate Gene
Sammons RD; Gaines TA (2014)
Glyphosate resistance: state of knowledge.
GP00001887
At2g45300
P05466
Physiology
26-37 copies of the EPSPS gene
Amaranthus spinosus
(species)
Amaranthus spinosus
(species) D
EPSPS
Amaranthus spinosus
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Eleusine indica
goosegrass - (species) D
Intraspecific
Candidate Gene
Baerson SR; Rodriguez DJ; Tran M ; et al. (2002)
Glyphosate-resistant goosegrass. Identification of a mutation in the target enzyme 5-enolpyruvylshik[...]
GP00001888
At2g45300
P05466
Physiology
Pro106Ser leading to 2-4-fold resistance
Eleusine indica
goosegrass - (species)
Eleusine indica
goosegrass - (species) D
EPSPS
Eleusine indica
goosegrass - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Echinochloa colona
(species) D
Intraspecific
Candidate Gene
Morran S; Moretti ML; Brunharo CA ; et al. (2018)
Multiple target site resistance to glyphosate in junglerice (Echinochloa colona) lines from Californ[...]
GP00001889
At2g45300
P05466
Physiology
Pro106Ser leading to resistance
Echinochloa colona
(species)
Echinochloa colona
(species) D
EPSPS
Echinochloa colona
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Echinochloa colona
(species) D
Intraspecific
Candidate Gene
Morran S; Moretti ML; Brunharo CA ; et al. (2018)
Multiple target site resistance to glyphosate in junglerice (Echinochloa colona) lines from Californ[...]
GP00001890
At2g45300
P05466
Physiology
Pro106Leu leading to resistance
Echinochloa colona
(species)
Echinochloa colona
(species) D
EPSPS
Echinochloa colona
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Echinochloa colona
(species) D
Intraspecific
Candidate Gene
Morran S; Moretti ML; Brunharo CA ; et al. (2018)
Multiple target site resistance to glyphosate in junglerice (Echinochloa colona) lines from Californ[...]
GP00001891
At2g45300
P05466
Physiology
Pro106Thr leading to resistance
Echinochloa colona
(species)
Echinochloa colona
(species) D
EPSPS
Echinochloa colona
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Amaranthus tuberculatus
(species) D
Intraspecific
Candidate Gene
Bell Michael S; Hager Aaron G; Tranel Patrick J (2013
)
Multiple resistance to herbicides from four site-of-action groups in waterhemp (Amaranthus tubercula[...]
GP00001892
At2g45300
P05466
Physiology
resistance not due to EPSPS amplification; partly due to P106S mutation
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
EPSPS
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium multiflorum
Italian ryegrass - (species) D
Intraspecific
Candidate Gene
Jasieniuk Marie; Ahmad Riaz; Sherwood Anna M ; et al. (2008
)
Glyphosate-resistant Italian ryegrass (Lolium multiflorum) in California: distribution, response to [...]
GP00001896
At2g45300
P05466
Physiology
Pro106Ser
Lolium multiflorum
Italian ryegrass - (species)
Lolium multiflorum
Italian ryegrass - (species) D
EPSPS
Lolium multiflorum
Italian ryegrass - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium multiflorum
Italian ryegrass - (species) D
Intraspecific
Candidate Gene
Jasieniuk Marie; Ahmad Riaz; Sherwood Anna M ; et al. (2008
)
Glyphosate-resistant Italian ryegrass (Lolium multiflorum) in California: distribution, response to [...]
GP00001897
At2g45300
P05466
Physiology
Pro106Ala conferring 5-15-fold resistance
Lolium multiflorum
Italian ryegrass - (species)
Lolium multiflorum
Italian ryegrass - (species) D
EPSPS
Lolium multiflorum
Italian ryegrass - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Eleusine indica
goosegrass - (species) D
Intraspecific
Candidate Gene
Ng CH; Wickneswari R; Salmijah S ; et al. (2003
)
Gene polymorphisms in glyphosate‐resistant and‐susceptible biotypes of Eleusine indica from Malaysia[...]
GP00001898
At2g45300
P05466
Physiology
Pro106Thr leading to 3-fold resistance
Eleusine indica
goosegrass - (species)
Eleusine indica
goosegrass - (species) D
EPSPS
Eleusine indica
goosegrass - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Digitaria insularis
(species) D
Intraspecific
Candidate Gene
de Carvalho LB; Alves PL; González-Torralva F ; et al. (2012)
Pool of resistance mechanisms to glyphosate in Digitaria insularis.
GP00001899
At2g45300
P05466
Physiology
Pro106Thr
Digitaria insularis
(species)
Digitaria insularis
(species) D
EPSPS
Digitaria insularis
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium rigidum
(species) D
Intraspecific
Candidate Gene
Kaundun SS; Dale RP; Zelaya IA ; et al. (2011)
A novel P106L mutation in EPSPS and an unknown mechanism(s) act additively to confer resistance to g[...]
GP00001900
At2g45300
P05466
Physiology
Pro106Leu conferring a 1.7-fold resistance increase to glyphosate at the whole plant level
Lolium rigidum
(species)
Lolium rigidum
(species) D
EPSPS
Lolium rigidum
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium rigidum
(species) D
Intraspecific
Candidate Gene
Bostamam Yazid; Malone Jenna M; Dolman Fleur C ; et al. (2012
)
Rigid ryegrass (Lolium rigidum) populations containing a target site mutation in EPSPS and reduced g[...]
GP00001901
At2g45300
P05466
Physiology
Pro106Ser
Lolium rigidum
(species)
Lolium rigidum
(species) D
EPSPS
Lolium rigidum
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium rigidum
(species) D
Intraspecific
Candidate Gene
Bostamam Yazid; Malone Jenna M; Dolman Fleur C ; et al. (2012
)
Rigid ryegrass (Lolium rigidum) populations containing a target site mutation in EPSPS and reduced g[...]
GP00001902
At2g45300
P05466
Physiology
Pro106Thr
Lolium rigidum
(species)
Lolium rigidum
(species) D
EPSPS
Lolium rigidum
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium rigidum
(species) D
Intraspecific
Candidate Gene
Yu Q; Cairns A; Powles S (2007)
Glyphosate, paraquat and ACCase multiple herbicide resistance evolved in a Lolium rigidum biotype.
GP00001903
At2g45300
P05466
Physiology
Pro106Ala
Lolium rigidum
(species)
Lolium rigidum
(species) D
EPSPS
Lolium rigidum
(species)
Published - Accepted by Curator
ERECTA
Plant architecture
Leaf architecture
Transpiration
Unknown,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Masle J; Gilmore SR; Farquhar GD (2005)
The ERECTA gene regulates plant transpiration efficiency in Arabidopsis.
2 Additional References
GP00000280
ERECTA
Q42371
Morphology
Morphology
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
ERECTA
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
ERECTA
Pathogen resistance (Cucumerina fungus)
Unknown,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Llorente F; Alonso-Blanco C; Sánchez-Rodriguez C ; et al. (2005)
ERECTA receptor-like kinase and heterotrimeric G protein from Arabidopsis are required for resistanc[...]
GP00001244
ERECTA
Q42371
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
ERECTA
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
GP00000281
ERG11
P10613
Physiology
Y132H
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
GP00000282
ERG11
P10613
Physiology
S405F
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
GP00000283
ERG11
P10613
Physiology
G464S
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
GP00000284
ERG11
P10613
Physiology
R467K
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(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
esterase B1
Xenobiotic resistance (insecticide; benzoylurea)
Gene Amplification,
Complex Change
Culex tritaeniorhynchus
(species) D
Intraspecific
Candidate Gene
Karunaratne SH; Vaughan A; Paton MG ; et al. (1998)
Amplification of a serine esterase gene is involved in insecticide resistance in Sri Lankan Culex tr[...]
GP00000290
B1
P16854
Physiology
Whole gene amplification
Culex tritaeniorhynchus
(species)
Culex tritaeniorhynchus
(species) D
esterase B1
Culex tritaeniorhynchus
(species)
Published - Accepted by Curator
esterase B1 + esterase A
Xenobiotic resistance (insecticide)
Gene Amplification,
Complex Change
Culex quinquefasciatus
southern house mosquito - (species) D
Intraspecific
Candidate Gene
Rooker S; Guillemaud T; Bergé J ; et al. (1996)
Coamplification of esterase A and B genes as a single unit in Culex pipiens mosquitoes.
GP00000291
B1
P16854
Physiology
Amplification of a region containing both genes
Culex quinquefasciatus
southern house mosquito - (species)
Culex quinquefasciatus
southern house mosquito - (species) D
esterase B1 + esterase A
Culex quinquefasciatus
southern house mosquito - (species)
Published - Accepted by Curator
esterase B1 = esterase beta1
Xenobiotic resistance (insecticide)
Gene Amplification,
Complex Change
Culex quinquefasciatus
southern house mosquito - (species) D
Intraspecific
Candidate Gene
Mouchès C; Pasteur N; Bergé JB ; et al. (1986)
Amplification of an esterase gene is responsible for insecticide resistance in a California Culex mo[...]
3 Additional References
GP00000292
B1
P16854
Physiology
Amplification of esterase B1 only
Culex quinquefasciatus
southern house mosquito - (species)
Culex quinquefasciatus
southern house mosquito - (species) D
esterase B1 = esterase beta1
Culex quinquefasciatus
southern house mosquito - (species)
Published - Accepted by Curator
esterase E4
Xenobiotic resistance (insecticide)
Gene Amplification,
Complex Change
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Field LM; Devonshire AL; Forde BG (1988)
Molecular evidence that insecticide resistance in peach-potato aphids (Myzus persicae Sulz.) results[...]
GP00000293
P35501
Physiology
Whole gene amplification
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
esterase E4
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia cuprina
Australian sheep blowfly - (species)
Intraspecific
Candidate Gene
Newcomb RD; Campbell PM; Ollis DL ; et al. (1997)
A single amino acid substitution converts a carboxylesterase to an organophosphorus hydrolase and co[...]
GP00000294
LcaE7
Q25252
Physiology
Gly137Asp
Lucilia cuprina
Australian sheep blowfly - (species)
Lucilia cuprina
Australian sheep blowfly - (species)
esterase isozyme E3
Lucilia cuprina
Australian sheep blowfly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia cuprina
Australian sheep blowfly - (species)
Intraspecific
Candidate Gene
Jackson CJ; Liu JW; Carr PD ; et al. (2013)
Structure and function of an insect α-carboxylesterase (αEsterase7) associated with insecticide resi[...]
GP00000295
LcaE7
Q25252
Physiology
Trp251Leu
Lucilia cuprina
Australian sheep blowfly - (species)
Lucilia cuprina
Australian sheep blowfly - (species)
esterase isozyme E3
Lucilia cuprina
Australian sheep blowfly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia sericata
common green bottle fly - (species)
Intraspecific
Candidate Gene
Hartley CJ; Newcomb RD; Russell RJ ; et al. (2006)
Amplification of DNA from preserved specimens shows blowflies were preadapted for the rapid evolutio[...]
GP00000296
LcaE7
Q25252
Physiology
Trp251Leu
Lucilia sericata
common green bottle fly - (species)
Lucilia sericata
common green bottle fly - (species)
esterase isozyme E3
Lucilia sericata
common green bottle fly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia sericata
common green bottle fly - (species) D
Intraspecific
Candidate Gene
Hartley CJ; Newcomb RD; Russell RJ ; et al. (2006)
Amplification of DNA from preserved specimens shows blowflies were preadapted for the rapid evolutio[...]
GP00000297
LcaE7
Q25252
Physiology
Trp251Ser
Lucilia sericata
common green bottle fly - (species)
Lucilia sericata
common green bottle fly - (species) D
esterase isozyme E3
Lucilia sericata
common green bottle fly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia sericata
common green bottle fly - (species) D
Intraspecific
Candidate Gene
Hartley CJ; Newcomb RD; Russell RJ ; et al. (2006)
Amplification of DNA from preserved specimens shows blowflies were preadapted for the rapid evolutio[...]
GP00000298
LcaE7
Q25252
Physiology
Gly137Asp
Lucilia sericata
common green bottle fly - (species)
Lucilia sericata
common green bottle fly - (species) D
esterase isozyme E3
Lucilia sericata
common green bottle fly - (species)
Published - Accepted by Curator
esterase isozyme E7 = E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Claudianos C; Russell RJ; Oakeshott JG (1999)
The same amino acid substitution in orthologous esterases confers organophosphate resistance on the [...]
GP00000299
LcaE7
Q25252
Physiology
Gly137Asp
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
esterase isozyme E7 = E3
Musca domestica
house fly - (species)
Published - Accepted by Curator
ETC2
Trichome density (leaf)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Hilscher J; Schlötterer C; Hauser MT (2009)
A single amino acid replacement in ETC2 shapes trichome patterning in natural Arabidopsis population[...]
GP00001237
ETC2
Q84RD1
Morphology
K19E
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
ETC2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
eve
Developmental time
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Palsson A; Wesolowska N; Reynisdóttir S ; et al. (2014)
Naturally occurring deletions of hunchback binding sites in the even-skipped stripe 3+7 enhancer.
GP00001986
eve
P06602
Physiology
72bp deletion that removes one of the hb protein-binding sites in the stripe 3+7 enhancer of eve. The deletion also removes half of a putative slp1 protein-binding site.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
eve
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
exp-1
Aggregation behavior
Cis-regulatory,
Unknown
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Bendesky A; Pitts J; Rockman MV ; et al. (2012)
Long-range regulatory polymorphisms affecting a GABA receptor constitute a quantitative trait locus [...]
GP00000300
exp-1
G5ECJ0
Behavior
unidentified; 6.2kb wide genetic interval 3' of the exp-1 gene
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
exp-1
Caenorhabditis elegans
(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
FAR (pheromone gland FAR)
Pheromone production (isomeric/chirality divergence)
Coding,
Unknown
Ostrinia nubilalis
European corn borer - (species)
Intraspecific
Linkage Mapping
Lassance JM; Groot AT; Liénard MA ; et al. (2010)
Allelic variation in a fatty-acyl reductase gene causes divergence in moth sex pheromones.
1 Additional References
GP00000304
pgFAR
D3U9W3
Physiology
Candidate a.a. substitutions with effect validated in vitro
Ostrinia nubilalis
European corn borer - (species)
Ostrinia nubilalis
European corn borer - (species)
FAR (pheromone gland FAR)
Ostrinia nubilalis
European corn borer - (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
FGF5 (fibroblast growth factor 5)
Hair length
Coding,
Deletion
N
Equus asinus
ass - (species) D
Intraspecific
Candidate Gene
Legrand R; Tiret L; Abitbol M (2014)
Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys.
GP00001369
Fgf5
P15656
Morphology
c.433_434delAT frameshift deletion leading to a stop codon at position 159 N
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
FGF5 (fibroblast growth factor 5)
Equus asinus
ass - (species)
Published - Accepted by Curator
FGF5 (fibroblast growth factor 5)
Hair length
Coding,
SNP
N
Equus asinus
ass - (species) D
Intraspecific
Candidate Gene
Legrand R; Tiret L; Abitbol M (2014)
Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys.
GP00001370
Fgf5
P15656
Morphology
c.245G>A nonsense mutation leading to stop codon at position 82 N
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
FGF5 (fibroblast growth factor 5)
Equus asinus
ass - (species)
Published - Accepted by Curator
FGFR2
Hair thickness
Cis-regulatory,
Unknown
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Fujimoto A; Nishida N; Kimura R ; et al. (2009)
FGFR2 is associated with hair thickness in Asian populations.
GP00000314
FGFR2
P21802
Morphology
Unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FGFR2
Homo sapiens
human - (species)
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
fiz
Body size
3 Mutations:
Cis-regulatory
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Glaser-Schmitt A; Parsch J (2018)
Functional characterization of adaptive variation within a cis-regulatory element influencing Drosop[...]
GP00002017
fiz
Q9VY04
Morphology
3 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
fiz
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Flavonoid 3'-5'-hydroxylase (F3'5'H)
Plant secondary metabolite (catechin)
Unknown,
Unknown
Camellia sinensis
(species)
Intraspecific
Linkage Mapping
Jin JQ; Ma JQ; Yao MZ ; et al. (2017)
Functional natural allelic variants of flavonoid 3',5'-hydroxylase gene governing catechin traits in[...]
GP00001620
F3'5'H1
A3KLR7
Physiology
several candidate SNPs
Camellia sinensis
(species)
Camellia sinensis
(species)
Flavonoid 3'-5'-hydroxylase (F3'5'H)
Camellia sinensis
(species)
Published - Accepted by Curator
Flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers; pubescence; seeds)
Coding,
Deletion
N
Glycine soja
(species) D
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000315
CYP75B1
Q9SD85
Morphology
-1bp at +973 resulting in premature stop codon N
Glycine max
soybean - (species)
Glycine soja
(species) D
Flavonoid 3'-hydroxylase (F3'H)
Glycine soja
(species)
Published - Accepted by Curator
Flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers; pubescence; seeds)
Coding,
Deletion
N
Glycine soja
(species) D
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000316
CYP75B1
Q9SD85
Morphology
-1bp at +1164 resulting in premature stop codon N
Glycine max
soybean - (species)
Glycine soja
(species) D
Flavonoid 3'-hydroxylase (F3'H)
Glycine soja
(species)
Published - Accepted by Curator
Flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers; pubescence; seeds)
Coding,
Indel
Glycine soja
(species)
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000317
CYP75B1
Q9SD85
Morphology
a single base insertion of an adenine at position 965 as well as a single base deletion of adenine at position 973 resulting in N322K and Q324T - exact causing mutation(s) unknown
Glycine max
soybean - (species)
Glycine soja
(species)
Flavonoid 3'-hydroxylase (F3'H)
Glycine soja
(species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers; pubescence; seeds)
Coding,
Insertion
N
Glycine soja
(species) D
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000322
CYP75A2
P37120
Morphology
53bp insertion at +1352 N
Glycine max
soybean - (species)
Glycine soja
(species) D
flavonoid 3';5'-hydroxylase (F3'5'H)
Glycine soja
(species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers)
Coding,
SNP
Glycine soja
(species)
Intraspecific
Linkage Mapping
Takahashi R; Dubouzet JG; Matsumura H ; et al. (2010)
A new allele of flower color gene W1 encoding flavonoid 3'5'-hydroxylase is responsible for light pu[...]
GP00000323
CYP75A2
P37120
Morphology
V210M (uncertain); no expression level differences detected
Glycine soja
(species)
Glycine soja
(species)
flavonoid 3';5'-hydroxylase (F3'5'H)
Glycine soja
(species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers)
Cis-regulatory,
Unknown
Phlox drummondii
(species)
Intraspecific
Linkage Mapping
Hopkins R; Rausher MD (2011)
Identification of two genes causing reinforcement in the Texas wildflower Phlox drummondii.
GP00000325
CYP75A2
P37120
Morphology
unknown
Phlox drummondii
(species)
Phlox drummondii
(species)
flavonoid 3';5'-hydroxylase (F3'5'H)
Phlox drummondii
(species)
Published - Accepted by Curator
FLC (=Pep1)
Flowering time
Gene Amplification,
Indel
Arabis alpina
gray rockcress - (species)
Intraspecific
Candidate Gene
Albani MC; Castaings L; Wötzel S ; et al. (2012)
PEP1 of Arabis alpina is encoded by two overlapping genes that contribute to natural genetic variati[...]
GP00000329
FLC
Q9S7Q7
Physiology
complex structural variations
Arabis alpina
gray rockcress - (species)
Arabis alpina
gray rockcress - (species)
FLC (=Pep1)
Arabis alpina
gray rockcress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Werner JD; Borevitz JO; Uhlenhaut NH ; et al. (2005)
FRIGIDA-independent variation in flowering time of natural Arabidopsis thaliana accessions.
1 Additional References
GP00000330
FLC
Q9S7Q7
Physiology
Substitution creating premature Stop (codon 158) N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
2 Mutations:
Cis-regulatory
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Coustham V; Li P; Strange A ; et al. (2012)
Quantitative modulation of polycomb silencing underlies natural variation in vernalization.
1 Additional References
GP00000331
FLC
Q9S7Q7
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Cis-regulatory,
Insertion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Michaels SD; He Y; Scortecci KC ; et al. (2003)
Attenuation of FLOWERING LOCUS C activity as a mechanism for the evolution of summer-annual flowerin[...]
2 Additional References
GP00000332
FLC
Q9S7Q7
Physiology
TE insertion in intron 1; a region required for normal FLC regulation
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Michaels SD; He Y; Scortecci KC ; et al. (2003)
Attenuation of FLOWERING LOCUS C activity as a mechanism for the evolution of summer-annual flowerin[...]
1 Additional References
GP00000333
FLC
Q9S7Q7
Physiology
Not identified
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Werner JD; Borevitz JO; Uhlenhaut NH ; et al. (2005)
FRIGIDA-independent variation in flowering time of natural Arabidopsis thaliana accessions.
1 Additional References
GP00000334
FLC
Q9S7Q7
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Werner JD; Borevitz JO; Uhlenhaut NH ; et al. (2005)
FRIGIDA-independent variation in flowering time of natural Arabidopsis thaliana accessions.
1 Additional References
GP00000335
FLC
Q9S7Q7
Physiology
GA substitution disrupting Splice Site
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Sánchez-Bermejo E; Méndez-Vigo B; Picó FX ; et al. (2012)
Novel natural alleles at FLC and LVR loci account for enhanced vernalization responses in Arabidopsi[...]
1 Additional References
GP00000336
FLC
Q9S7Q7
Physiology
50bp deletion in 5'UTR
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Coding,
SNP
Capsella rubella
(species)
Intraspecific
Linkage Mapping
Guo YL; Todesco M; Hagmann J ; et al. (2012)
Independent FLC mutations as causes of flowering-time variation in Arabidopsis thaliana and Capsella[...]
GP00000337
FLC
Q9S7Q7
Physiology
Splice site mutation introducing frameshift; removing the last 35 of 198 amino acids
Capsella rubella
(species)
Capsella rubella
(species)
FLC (Flowering Locus C)
Capsella rubella
(species)
Published - Accepted by Curator
FLM (MAF1)
Flowering time
Gene Loss,
Complex Change
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Werner JD; Borevitz JO; Warthmann N ; et al. (2005)
Quantitative trait locus mapping and DNA array hybridization identify an FLM deletion as a cause for[...]
GP00000341
AGL27
Q9AT76
Physiology
Deletion of entire gene N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLM (MAF1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
foraging
Food-search behavior
Cis-regulatory,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Osborne KA; Robichon A; Burgess E ; et al. (1997)
Natural behavior polymorphism due to a cGMP-dependent protein kinase of Drosophila.
2 Additional References
GP00000350
for
Q03043
Behavior
The fors (sitter) and forR (rover) alleles differ in a SNP that lies within a predicted Mad protein-binding site in a region upstream of the pr4 transcription start site. The SNP is a C in fors and an A in forR (the latter is predicted to reduce Mad protein binding).
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
foraging
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
FPN2
Metal tolerance
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Morrissey J; Baxter IR; Lee J ; et al. (2009)
The ferroportin metal efflux proteins function in iron and cobalt homeostasis in Arabidopsis.
GP00000354
IREG2
F4KGN5
Physiology
1bp insertion resulting in frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
FPN2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FRD3 (FERRIC REDUCTASE DEFECTIVE3)
Metal tolerance
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Pineau C; Loubet S; Lefoulon C ; et al. (2012)
Natural variation at the FRD3 MATE transporter locus reveals cross-talk between Fe homeostasis and Z[...]
GP00000355
DTX43
Q9SFB0
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FRD3 (FERRIC REDUCTASE DEFECTIVE3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Johanson U; West J; Lister C ; et al. (2000)
Molecular analysis of FRIGIDA, a major determinant of natural variation in Arabidopsis flowering tim[...]
GP00000357
FRI
P0DH90
Physiology
16bp deletion aa313-318 in exon 2 and premature stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Indel
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Johanson U; West J; Lister C ; et al. (2000)
Molecular analysis of FRIGIDA, a major determinant of natural variation in Arabidopsis flowering tim[...]
1 Additional References
GP00000358
FRI
P0DH90
Physiology
376 bp deletion and 31 bp insertion that delete amino acid 1-15 and at best produce a 45-aa protein N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Indel
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
GP00000359
FRI
P0DH90
Physiology
Del 2257-2355 in exon 3; deletion of 99 bp combined with an insertion of 61 bp N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
GP00000360
FRI
P0DH90
Physiology
1bp deletion at 1487 in exon 1 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
GP00000361
FRI
P0DH90
Physiology
1bp insertion at 766 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
1 Additional References
GP00000362
FRI
P0DH90
Physiology
Insertion 1 bp at 1454 in exon 1 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
GP00000363
FRI
P0DH90
Physiology
Trp240* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
GP00000364
FRI
P0DH90
Physiology
Glu361* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Gazzani S; Gendall AR; Lister C ; et al. (2003)
Analysis of the molecular basis of flowering time variation in Arabidopsis accessions.
GP00000365
FRI
P0DH90
Physiology
K232* in exon 1 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000366
FRI
P0DH90
Physiology
deletion; E430* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000367
FRI
P0DH90
Physiology
deletion of 6 amino acids; LQLDKE422-427*
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000368
FRI
P0DH90
Physiology
deletion aa 1-12
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000369
FRI
P0DH90
Physiology
deletion resulting in S121* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000370
FRI
P0DH90
Physiology
deletion; AF375-6* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000371
FRI
P0DH90
Physiology
insertion; I490* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000372
FRI
P0DH90
Physiology
insertion; T258* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000373
FRI
P0DH90
Physiology
Y162* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000374
FRI
P0DH90
Physiology
K170* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Water use efficiency
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Lovell JT; Juenger TE; Michaels SD ; et al. (2013)
Pleiotropy of FRIGIDA enhances the potential for multivariate adaptation.
GP00000375
FRI
P0DH90
Physiology
Physiology
376 bp deletion within the promoter of the TSU-1 FRI allele
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida like 1 (FRL1)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Schläppi MR (2006)
FRIGIDA LIKE 2 is a functional allele in Landsberg erecta and compensates for a nonsense allele of F[...]
GP00000376
FRL1
Q9FFF1
Physiology
E279* in the middle of the conceptual protein sequence N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida like 1 (FRL1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida like 2 (FRL2)
Flowering time
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Schläppi MR (2006)
FRIGIDA LIKE 2 is a functional allele in Landsberg erecta and compensates for a nonsense allele of F[...]
GP00000377
FRL2
Q9C6S2
Physiology
A132P and/or L401Q
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida like 2 (FRL2)
Arabidopsis thaliana
thale cress - (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
FUMARASE 2
Plant metabolism (fumarate/malate ratio)
Plant growth (bio-mass production)
Cis-regulatory,
Indel
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Riewe D; Jeon HJ; Lisec J ; et al. (2016)
A naturally occurring promoter polymorphism of the Arabidopsis FUM2 gene causes expression variation[...]
1 Additional References
GP00001286
FUM2
Q9FI53
Physiology
Physiology
2068 bp in promotor region @position -395. AND 3833bp in promotor region @position -1107
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FUMARASE 2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FUT2
ABO antigen blood type
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
1 Additional References
GP00000379
FUT2
Q10981
Physiology
9.3 kb deletion mediated by recombination between Alu sequences N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
FUT2
Homo sapiens
human - (species)
Published - Accepted by Curator
FUT2
ABO antigen blood type
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
2 Additional References
GP00000380
FUT2
Q10981
Physiology
10 kb deletion mediated by recombination between Alu sequences N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
FUT2
Homo sapiens
human - (species)
Published - Accepted by Curator
FUT2
ABO antigen blood type
Coding,
SNP
N
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
1 Additional References
GP00000381
FUT2
Q10981
Physiology
premature stop at codon 143: TGG>TGA N
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FUT2
Homo sapiens
human - (species)
Published - Accepted by Curator
FUT2
ABO antigen blood type
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
1 Additional References
GP00000382
FUT2
Q10981
Physiology
Ile129Phe
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FUT2
Homo sapiens
human - (species)
Published - Accepted by Curator
G protein-coupled receptor rhodopsin
Diapause
Unknown,
Unknown
Daphnia magna
(species)
Intraspecific
Linkage Mapping
Roulin AC; Bourgeois Y; Stiefel U ; et al. (2016)
A Photoreceptor Contributes to the Natural Variation of Diapause Induction in Daphnia magna.
GP00001539
RHO
P08100
Physiology
unknown
Daphnia magna
(species)
Daphnia magna
(species)
G protein-coupled receptor rhodopsin
Daphnia magna
(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
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
GDF6
Dermal bone size (armor plates)
Cis-regulatory,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Indjeian VB; Kingman GA; Jones FC ; et al. (2016)
Evolving New Skeletal Traits by cis-Regulatory Changes in Bone Morphogenetic Proteins.
GP00000388
GDF6
Q6KF10
Morphology
gain of a flank enhancer activity involving a complex repeat region; 1.2kb L2 LINE insertion; 18 small indels and 89 SNPs - the LINE insertion is required but not sufficient, to produce increased flank expression
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
GDF6
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
Ge-1
Pathogen resistance (sigma virus)
Coding,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Cao C; Magwire MM; Bayer F ; et al. (2016)
A Polymorphism in the Processing Body Component Ge-1 Controls Resistance to a Naturally Occurring Rh[...]
GP00001993
Ge-1
Q9VKK1
Physiology
78bp deletion ( 2L:11097925 ..11098002 in both Release 5 and Release 6 coordinates) in the fifth exon of Ge-1 which reduces the length of the serine-rich linker region by 26 amino acid residues
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Ge-1
Drosophila melanogaster
fruit fly - (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
GIBBERELLIC ACID REQUIRING 1 (GA1)
Flower morphology
Unknown,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Brock MT; Kover PX; Weinig C (2012)
Natural variation in GA1 associates with floral morphology in Arabidopsis thaliana.
GP00000395
GA1
Q38802
Morphology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
GIBBERELLIC ACID REQUIRING 1 (GA1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
GLABROUS1
Trichome (leaves)
Unknown,
Unknown
Arabidopsis
(genus)
Intraspecific
Candidate Gene
Hauser MT; Harr B; Schlötterer C (2001)
Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]
1 Additional References
GP00000398
GL1
P27900
Morphology
unknown
Arabidopsis
(genus)
Arabidopsis
(genus)
GLABROUS1
Arabidopsis
(genus)
Published - Accepted by Curator
GLABROUS1
Trichome density (leaf)
Gene Loss,
Deletion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Hauser MT; Harr B; Schlötterer C (2001)
Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]
1 Additional References
GP00001238
GL1
P27900
Morphology
gene loss: -4.7KB at position -948bp N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
GLABROUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
GLABROUS1
Trichome density (leaf)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Hauser MT; Harr B; Schlötterer C (2001)
Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]
1 Additional References
GP00001239
GL1
P27900
Morphology
S92F
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
GLABROUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
GLABROUS1
Trichome density (leaf)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Hauser MT; Harr B; Schlötterer C (2001)
Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]
1 Additional References
GP00001240
GL1
P27900
Morphology
+1bp at position 352 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
GLABROUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
GLABROUS1
Trichome density (leaf)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Hauser MT; Harr B; Schlötterer C (2001)
Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]
1 Additional References
GP00001241
GL1
P27900
Morphology
-1bp at position 203 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
GLABROUS1
Arabidopsis thaliana
thale cress - (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
glb-5
CO2 avoidance
Aggregation behavior
Coding,
Indel
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
McGrath PT; Rockman MV; Zimmer M ; et al. (2009)
Quantitative mapping of a digenic behavioral trait implicates globin variation in C. elegans sensory[...]
2 Additional References
GP00000399
glb-5
A3RMS5
Behavior
Behavior
765bp insertion/duplication resulting in a truncation of the last 179 amino acids of the protein and the inclusion of 40 different residues N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
glb-5
Caenorhabditis elegans
(species)
Published - Accepted by Curator
GLC-1
Xenobiotic resistance (antihelmintics)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Ghosh R; Andersen EC; Shapiro JA ; et al. (2012)
Natural variation in a chloride channel subunit confers avermectin resistance in C. elegans.
GP00000400
glc-1
G5EBR3
Physiology
4aa deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
GLC-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
GLO(T)
Flower morphology (anther elevation)
Coding,
Insertion
N
Primula vulgaris
(species) D
Intraspecific
Linkage Mapping
Li J; Cocker JM; Wright J ; et al. (2016)
Genetic architecture and evolution of the S locus supergene in Primula vulgaris.
GP00001393
GLO
Q03378
Morphology
A 2.5 kb retrotransposon in exon 2 severely truncates the protein N
Primula vulgaris
(species)
Primula vulgaris
(species) D
GLO(T)
Primula vulgaris
(species)
Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)
Pathogen resistance (malaria)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Tishkoff SA; Varkonyi R; Cahinhinan N ; et al. (2001)
Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer m[...]
GP00000401
G6PD
P11413
Physiology
Ser188Phe C>T
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-6-phosphate dehydrogenase (G6PD)
Homo sapiens
human - (species)
Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)
Pathogen resistance (malaria)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Louicharoen C; Patin E; Paul R ; et al. (2009)
Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast Asians.
GP00000402
G6PD
P11413
Physiology
Ser163Gly
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-6-phosphate dehydrogenase (G6PD)
Homo sapiens
human - (species)
Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)
Pathogen resistance (malaria)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Tishkoff SA; Varkonyi R; Cahinhinan N ; et al. (2001)
Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer m[...]
GP00000403
G6PD
P11413
Physiology
Val68Met G>A at nucleotide position 376 in exon 5 - OMIM code +305900.0002
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-6-phosphate dehydrogenase (G6PD)
Homo sapiens
human - (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
glycerol-3-phosphate dehydrogenase (Gpdh)
Enzymatic activity
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Bewley Glenn C (1981
)
Genetic control of the developmental program of L‐glycerol‐3‐phosphate dehydrogenase isozymes in Dro[...]
GP00001992
Gpdh
P13706
Physiology
Exact causal mutation(s) unknown.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
glycerol-3-phosphate dehydrogenase (Gpdh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
glycerol-3-phosphate dehydrogenase (Gpdh)
Enzymatic activity
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Wilanowski TM; Gibson JB; Symonds JE (1995)
Retrotransposon insertion induces an isozyme of sn-glycerol-3-phosphate dehydrogenase in Drosophila [...]
GP00001998
Gpdh
P13706
Physiology
insertion of a 8kb blood retrotransposon in the 3' region of the Gpdh gene 66bp downstream of the stop codon. This mutation induces a GPDH isozyme-GPDH-4-and alters the pattern of expression of the three normal isozymes-GPDH-1 to GPDH-3.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
glycerol-3-phosphate dehydrogenase (Gpdh)
Drosophila melanogaster
fruit fly - (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
GNBP1
Pathogen resistance
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Sackton TB; Lazzaro BP; Clark AG (2010)
Genotype and gene expression associations with immune function in Drosophila.
GP00000408
GNBP1
Q9NHB0
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
GNBP1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
GNBP2
Pathogen resistance
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Sackton TB; Lazzaro BP; Clark AG (2010)
Genotype and gene expression associations with immune function in Drosophila.
GP00000409
GNBP2
Q9VVR4
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
GNBP2
Drosophila melanogaster
fruit fly - (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
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
Insertion
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Jørgensen S; Have CT; Underwood CR ; et al. (2017)
Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]
GP00001669
GPRC6A
Q5T6X5
Physiology
insertion of KL (6 bp) resulting in sequence KGKKLY in the third intracellular loop (ICL3) with surface expression and function greatly reduced
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
GPRC6A
Homo sapiens
human - (species)
Published - Accepted by Curator
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
Deletion
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Jørgensen S; Have CT; Underwood CR ; et al. (2017)
Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]
GP00001670
GPRC6A
Q5T6X5
Physiology
KGRKLP>KGRK-Y in the third intracellular loop (ICL3) with surface expression and function greatly reduced
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
GPRC6A
Homo sapiens
human - (species)
Published - Accepted by Curator
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Jørgensen S; Have CT; Underwood CR ; et al. (2017)
Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]
GP00001671
GPRC6A
Q5T6X5
Physiology
KGRKLP>KGK--Y in the third intracellular loop (ICL3) responsible for the intracellular retention and lack of function N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
GPRC6A
Homo sapiens
human - (species)
Published - Accepted by Curator
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Jørgensen S; Have CT; Underwood CR ; et al. (2017)
Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]
GP00001672
GPRC6A
Q5T6X5
Physiology
C>T (aa57) located in the first exon resulting in a premature Stop-codon and non-functional protein N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
GPRC6A
Homo sapiens
human - (species)
Published - Accepted by Curator
Gr5a
Taste sensitivity (sugar; trehalose)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Ueno K; Ohta M; Morita H ; et al. (2001)
Trehalose sensitivity in Drosophila correlates with mutations in and expression of the gustatory rec[...]
2 Additional References
GP00001997
Gr5a
Q9W497
Physiology
Nucleotide change: A5681571G - Amino acid change: T218A
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Gr5a
Drosophila melanogaster
fruit fly - (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
Growth Hormone Receptor
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
Homo sapiens
human - (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
GSTE1-E10 cluster
Xenobiotic resistance (drug)
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Kislukhin G; King EG; Walters KN ; et al. (2013)
The genetic architecture of methotrexate toxicity is similar in Drosophila melanogaster and humans.
GP00000419
GstE1
Q7KK90
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
GSTE1-E10 cluster
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
SNP
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Linkage Mapping
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000426
ABCA2
A0A0S0G7V0
Physiology
Pro53* (161T>A) N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Deletion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Xu X; Yu L; Wu Y (2005)
Disruption of a cadherin gene associated with resistance to Cry1Ac {delta}-endotoxin of Bacillus thu[...]
2 Additional References
GP00000427
ABCA2
A0A0S0G7V0
Physiology
10kb deletion N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Yang Y; Chen H; Wu S ; et al. (2006)
Identification and molecular detection of a deletion mutation responsible for a truncated cadherin o[...]
1 Additional References
GP00000428
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Yang Y; Chen H; Wu S ; et al. (2006)
Identification and molecular detection of a deletion mutation responsible for a truncated cadherin o[...]
1 Additional References
GP00000429
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000430
ABCA2
A0A0S0G7V0
Physiology
Insertion of an incomplete RNA transposon (1498bp) N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000431
ABCA2
A0A0S0G7V0
Physiology
Insertion of a DNA transposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000432
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000433
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
HAC1 (=ATQ1)
Xenobiotic resistance (soil contamination; arsenate)
Unknown,
Complex Change
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Sánchez-Bermejo E; Castrillo G; del Llano B ; et al. (2014)
Natural variation in arsenate tolerance identifies an arsenate reductase in Arabidopsis thaliana.
1 Additional References
GP00000434
HAC1
Q9C5X9
Physiology
Coding variation and differential gene expression in roots
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
HAC1 (=ATQ1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
HAC1 (=ATQ1)
Xenobiotic resistance (soil contamination; arsenate)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Chao DY; Chen Y; Chen J ; et al. (2014)
Genome-wide association mapping identifies a new arsenate reductase enzyme critical for limiting ars[...]
GP00000435
HAC1
Q9C5X9
Physiology
1bp deletion resulting in frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
HAC1 (=ATQ1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
hairy (h)
Bristle number (thorax)
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Robin C; Lyman RF; Long AD ; et al. (2002)
hairy: A quantitative trait locus for drosophila sensory bristle number.
GP00000436
h
P14003
Morphology
unknown; complex promoter indel variation shows high-association
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
hairy (h)
Drosophila melanogaster
fruit fly - (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[...]
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
heavy metal atpase3 (HMA3)
Metal tolerance
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Chao DY; Silva A; Baxter I ; et al. (2012)
Genome-wide association studies identify heavy metal ATPase3 as the primary determinant of natural v[...]
GP00000443
HMA3
P0CW78
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase3 (HMA3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
heavy metal atpase3 (HMA3)
Metal tolerance
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Chao DY; Silva A; Baxter I ; et al. (2012)
Genome-wide association studies identify heavy metal ATPase3 as the primary determinant of natural v[...]
GP00000444
HMA3
P0CW78
Physiology
1-bp deletion resulting in a premature stop codon resulting in hypofunctional transporter. This is a high-frequency allele; suggesting the hyper-functional alleles are only selected in Cd-rich soils N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase3 (HMA3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
heavy metal atpase3 (HMA3)
Metal tolerance
Gene Amplification,
Complex Change
Noccaea caerulescens
(species)
Intraspecific
Candidate Gene
Ueno D; Milner MJ; Yamaji N ; et al. (2011)
Elevated expression of TcHMA3 plays a key role in the extreme Cd tolerance in a Cd-hyperaccumulating[...]
GP00000446
HMA3
P0CW78
Physiology
Copy number Variant
Noccaea caerulescens
(species)
Noccaea caerulescens
(species)
heavy metal atpase3 (HMA3)
Noccaea caerulescens
(species)
Published - Accepted by Curator
heavy metal atpase5 (HMA5)
Metal tolerance
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Kobayashi Y; Kuroda K; Kimura K ; et al. (2008)
Amino acid polymorphisms in strictly conserved domains of a P-type ATPase HMA5 are involved in the m[...]
GP00000450
HMA5
Q9SH30
Physiology
P626L
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase5 (HMA5)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
heavy metal atpase5 (HMA5)
Metal tolerance
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Kobayashi Y; Kuroda K; Kimura K ; et al. (2008)
Amino acid polymorphisms in strictly conserved domains of a P-type ATPase HMA5 are involved in the m[...]
GP00000451
HMA5
Q9SH30
Physiology
N923T
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase5 (HMA5)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
HECW-1
Pathogen avoidance
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Chang HC; Paek J; Kim DH (2011)
Natural polymorphisms in C. elegans HECW-1 E3 ligase affect pathogen avoidance behaviour.
GP00000452
hecw-1
G5EEJ0
Behavior
Y322C
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
HECW-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
HECW-1
Pathogen avoidance
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Chang HC; Paek J; Kim DH (2011)
Natural polymorphisms in C. elegans HECW-1 E3 ligase affect pathogen avoidance behaviour.
GP00000453
hecw-1
G5EEJ0
Behavior
Q325P
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
HECW-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
hemoglobin; HBA-T1 and T2 paralogues
Hypoxia response
5 Mutations:
Coding
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Candidate Gene
Storz JF; Sabatino SJ; Hoffmann FG ; et al. (2007)
The molecular basis of high-altitude adaptation in deer mice.
2 Additional References
GP00000456
HBA1
P69905
Physiology
5 mutations
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species) D
hemoglobin; HBA-T1 and T2 paralogues
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas cyanoptera
cinnamon teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000457
HBA1
P69905
Physiology
Asn9Ser
Anas cyanoptera
cinnamon teal - (species)
Anas cyanoptera
cinnamon teal - (species) D
hemoglobin; HBA2
Anas cyanoptera
cinnamon teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000458
HBA1
P69905
Physiology
Ala77Thr
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBA2
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000459
HBAD
P02001
Physiology
Ser130Phe
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBA2
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Lophonetta specularioides
crested duck - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000463
HBA1
P69905
Physiology
Ala5Thr
Lophonetta specularioides
crested duck - (species)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBA2
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Merganetta armata
(species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000464
HBA1
P69905
Physiology
Ala77Thr
Merganetta armata
(species)
Merganetta armata
(species) D
hemoglobin; HBA2
Merganetta armata
(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
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000467
HBB
P68871
Physiology
2 mutations
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBB
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Anas georgica
yellow-billed pintail - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000468
HBB
P68871
Physiology
2 mutations
Anas georgica
yellow-billed pintail - (species)
Anas georgica
yellow-billed pintail - (species) D
hemoglobin; HBB
Anas georgica
yellow-billed pintail - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Lophonetta specularioides
crested duck - (species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000472
HBB
P68871
Physiology
Asp94Glu
Lophonetta specularioides
crested duck - (species)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBB
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBB-T1 and T2 paralogues
Hypoxia response
4 Mutations:
Coding
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Candidate Gene
Storz JF; Runck AM; Sabatino SJ ; et al. (2009)
Evolutionary and functional insights into the mechanism underlying high-altitude adaptation of deer [...]
1 Additional References
GP00000476
HBB
P68871
Physiology
4 mutations
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species) D
hemoglobin; HBB-T1 and T2 paralogues
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
HERC2
Coloration (eye; skin; hair)
Cis-regulatory,
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[...]
GP00001363
HERC2
O95714
Morphology
c. A>G
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
HERC2
Homo sapiens
human - (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-DQA1
Histocompatibility
Cis-regulatory,
Unknown
Papio
baboons - (genus)
Intraspecific
Candidate Gene
Loisel DA; Rockman MV; Wray GA ; et al. (2006)
Ancient polymorphism and functional variation in the primate MHC-DQA1 5' cis-regulatory region.
GP00000478
HLA-DQA1
P01909
Physiology
Promoter variation
Papio
baboons - (genus)
Papio
baboons - (genus)
HLA-DQA1
Papio
baboons - (genus)
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 (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
HP1D2
Sex determination (sex ratio distortion)
Coding,
Deletion
N
Drosophila simulans
(species) D
Intraspecific
Linkage Mapping
Helleu Q; Gérard PR; Dubruille R ; et al. (2016)
Rapid evolution of a Y-chromosome heterochromatin protein underlies sex chromosome meiotic drive.
GP00001467
HP1D2
B4R6K0
Physiology
deletion of 371bp that removes one-half (371bp) of the HP1D2 coding sequence resulting in a frameshift that prevents the translation of the C-terminal chromo shadow domain (CSD) mediating protein N
Drosophila simulans
(species)
Drosophila simulans
(species) D
HP1D2
Drosophila simulans
(species)
Published - Accepted by Curator
hsp70Ba
Temperature tolerance
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Lerman DN; Michalak P; Helin AB ; et al. (2003)
Modification of heat-shock gene expression in Drosophila melanogaster populations via transposable e[...]
GP00002004
Hsp70Ba
Q8INI8
Physiology
A 1447 bp fragment corresponding to the 39 end of a jockey element is inserted 107 bps upstream of the hsp70Ba transcription start site in the T strain. The insertion intervenes between HSEs 2 and 3; displacing HSEs 3 and 4 as well as three GAGA elements.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
hsp70Ba
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
hsp70Ba
Temperature tolerance
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Lerman DN; Michalak P; Helin AB ; et al. (2003)
Modification of heat-shock gene expression in Drosophila melanogaster populations via transposable e[...]
GP00002005
Hsp70Ba
Q8INI8
Physiology
Insertion of a 1222bp non-autonomous P-element at position -184 relative to the Hsp70Ba transcription start site. The P-element intervenes between the second and third heat shock response elements (HSEs).
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
hsp70Ba
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
hsp70Ba
Temperature tolerance
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Lerman DN; Michalak P; Helin AB ; et al. (2003)
Modification of heat-shock gene expression in Drosophila melanogaster populations via transposable e[...]
GP00002006
Hsp70Ba
Q8INI8
Physiology
A non-autonomous 1383bp P-element is inserted 97bp upstream of the Hsp70Ba transcription start site. The P-element intervenes between the second and third heat shock response elements (HSEs).
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
hsp70Ba
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
HUA2
Flowering time
Shoot morphology
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Wang Q; Sajja U; Rosloski S ; et al. (2007)
HUA2 caused natural variation in shoot morphology of A. thaliana.
GP00000491
HUA2
Q9XER9
Physiology
Morphology
K525E N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
HUA2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
HUA2
Flowering time
Coloration (temperature-dependent)
Coding,
Unknown
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Ilk N; Ding J; Ihnatowicz A ; et al. (2015)
Natural variation for anthocyanin accumulation under high-light and low-temperature stress is attrib[...]
1 Additional References
GP00001230
HUA2
Q9XER9
Physiology
Morphology
Premature stop codon resulting in truncation of 290 C-terminal amino-acids (hua-2-5 Ler allele) N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
HUA2
Arabidopsis thaliana
thale cress - (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
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
IIL1
Plant growth (pleiotropic growth abnormalities)
Cis-regulatory,
Insertion
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Sureshkumar S; Todesco M; Schneeberger K ; et al. (2009)
A genetic defect caused by a triplet repeat expansion in Arabidopsis thaliana.
1 Additional References
GP00001229
IIL1
Q94AR8
Morphology
expansion of a GAA/TTC trinucleotide repeat in the third intron
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
IIL1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
IL4
Immune response
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Linkage Mapping
Rockman MV; Hahn MW; Soranzo N ; et al. (2003)
Positive selection on a human-specific transcription factor binding site regulating IL4 expression.
GP00000497
IL4
P05112
Physiology
_524T promoter single base-pair substitution affecting binding of the NFAT transcription factor
Homo sapiens
human - (species)
Homo sapiens
human - (species)
IL4
Homo sapiens
human - (species)
Published - Accepted by Curator
IME1
Sporulation efficiency
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Gerke J; Lorenz K; Cohen B (2009)
Genetic interactions between transcription factors cause natural variation in yeast.
GP00000498
IME1
P21190
Physiology
L325M and/or 1bp synonymous substitution
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
IME1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator