Gephebase

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Gene	Trait	Mutation	Taxon B	Taxonomic Status	Evidence	Main Reference	Gephe ID	UniProtKB	Trait Category	Mutation Details	Taxon A	Taxon B	Edit Gene-GePhe	Taxon B	Status
ABCA1	Coloration (feathers) Cholesterol metabolism	Coding, SNP N	Gallus gallus chicken - (species) D	Domesticated	Linkage Mapping	Attie AD; Hamon Y; Brooks-Wilson AR ; et al. (2002) Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of t[...]	GP00001682	Abca1 P41233	Morphology; Physiology Morphology; Physiology	amino acid substitution at a residue that is conserved in the ABCA1 gene between human; mouse; chicken; and Takifugu rubripes. Generation of a mouse ABCA1 protein with the mutation disrupts protein function. N	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	ABCA1	Gallus gallus chicken - (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 Martin A; Saathoff M; Kuhn F (2010) A functional ABCC11 allele is essential in the biochemical formation of human axillary odor.	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
ABCG2	Milk yield	Coding, SNP	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Cohen-Zinder M; Seroussi E; Larkin DM ; et al. (2005) Identification of a missense mutation in the bovine ABCG2 gene with a major effect on the QTL on chr[...] 1 Additional References Olsen HG; Nilsen H; Hayes B (2007) Genetic support for a quantitative trait nucleotide in the ABCG2 gene affecting milk composition of [...]	GP00000015	Abcg2 Q7TMS5	Physiology	Tyr581Ser	Bos taurus cattle - (species)	Bos taurus cattle - (species)	ABCG2	Bos taurus cattle - (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 Ségurel L; Thompson EE; Flutre T (2012) The ABO blood group is a trans-species polymorphism in primates.	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 Ségurel L; Thompson EE; Flutre T (2012) The ABO blood group is a trans-species polymorphism in primates.	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, 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 Yazer MH; Hosseini-Maaf B; Olsson ML (2008) Blood grouping discrepancies between ABO genotype and phenotype caused by O alleles.	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, 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 Yazer MH; Hosseini-Maaf B; Olsson ML (2008) Blood grouping discrepancies between ABO genotype and phenotype caused by O alleles.	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
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-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 Mutero A; Pralavorio M; Bride JM (1994) Resistance-associated point mutations in insecticide-insensitive acetylcholinesterase. Menozzi P; Shi MA; Lougarre A (2004) Mutations of acetylcholinesterase which confer insecticide resistance in Drosophila melanogaster pop[...]	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, 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 (genitalia; leg sex comb)	3 Mutations: Cis-regulatory SNP	Drosophila santomea (species) D	Interspecific	Linkage Mapping	Nagy O; Nuez I; Savisaar R ; et al. (2018) Correlated Evolution of Two Copulatory Organs via a Single cis-Regulatory Nucleotide Change.	GP00001680	sc P10084	Morphology	3 mutations	Drosophila yakuba (species)	Drosophila santomea (species) D	achaete-scute complex	Drosophila santomea (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
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
AEP2	Hybrid Incompatibility (F2 sterility)	Coding, SNP	Saccharomyces bayanus (species)	Domesticated	Linkage Mapping	Lee HY; Chou JY; Cheong L ; et al. (2008) Incompatibility of nuclear and mitochondrial genomes causes hybrid sterility between two yeast speci[...]	GP00000051	AEP2 P22136	Physiology	The region between aa 348 and aa 496 plays a critical role. When this region was further dissected in the constructs H-AEP2-bcb and H-AEP2-m3; both failed to restore respiration in the Chromosome 13 line. This result suggests that multiple critical mutations have occurred during the functional diversification of Sc-AEP2 and Sb-AEP2. Exact causing mutation(s) not determined	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces bayanus (species)	AEP2	Saccharomyces bayanus (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)	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)	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 Barrett RDH; Laurent S; Mallarino R (2019) Linking a mutation to survival in wild mice.	GP00001974	Asip Q03288	Morphology	5 mutations	Peromyscus maniculatus North American deer mouse - (species)	Peromyscus maniculatus North American deer mouse - (species)	Agouti	Peromyscus maniculatus North American deer mouse - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Coding, SNP N	Peromyscus maniculatus North American deer mouse - (species)	Intraspecific	Association Mapping	Kingsley EP; Manceau M; Wiley CD ; et al. (2009) Melanism in peromyscus is caused by independent mutations in agouti.	GP00001976	Asip Q03288	Morphology	recessive mutation at nucleotide position 193 (in exon 3) resulting in a change from glutamine to a stop codon at amino acid position 65 (Q65term) N	Peromyscus maniculatus North American deer mouse - (species)	Peromyscus maniculatus North American deer mouse - (species)	Agouti	Peromyscus maniculatus North American deer mouse - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies)	Domesticated	Candidate Gene	Berryere TG; Kerns JA; Barsh GS ; et al. (2005) Association of an Agouti allele with fawn or sable coat color in domestic dogs.	GP00000060	Asip Q03288	Morphology	c.244G>T + 248G>A ; p.A82S + p.R83H A82S and R83H in Linkage Disequilibrium a G-to-T transversion and a G-to-A transition in exon 4 at positions corresponding to residues 244 and 248 of the cDNA sequence It is unknown if one or both substitutions alter Agouti protein function	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies)	Agouti (ASIP)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Kerns JA; Newton J; Berryere TG ; et al. (2004) Characterization of the dog Agouti gene and a nonagoutimutation in German Shepherd Dogs. 1 Additional References Berryere TG; Kerns JA; Barsh GS (2005) Association of an Agouti allele with fawn or sable coat color in domestic dogs.	GP00000061	Asip Q03288	Morphology	R96C ; g.23393552C>T c.286C>T p.R96C	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D	Agouti (ASIP)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, SNP	Ovis aries sheep - (species) D	Domesticated	Candidate Gene	Norris BJ; Whan VA (2008) A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...]	GP00001325	Asip Q03288	Morphology	unidentified promoter silencing	Ovis aries sheep - (species)	Ovis aries sheep - (species) D	Agouti (ASIP)	Ovis aries sheep - (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)	Coding, SNP	Equus asinus ass - (species) D	Domesticated	Candidate Gene	Abitbol M; Legrand R; Tiret L (2015) A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light poin[...]	GP00001335	Asip Q03288	Morphology	c.349T>C p.Cys117Arg	Equus asinus ass - (species)	Equus asinus ass - (species) D	Agouti (ASIP)	Equus asinus ass - (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 Gratten J; Pilkington JG; Brown EA (2012) Selection and microevolution of coat pattern are cryptic in a wild population of sheep.	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
AHR	Xenobiotic resistance (polycyclic aromatic hydrocarbons; TCDD)	Coding, SNP	Mus musculus house mouse - (species)	Domesticated	Linkage Mapping	Poland A; Palen D; Glover E (1994) Analysis of the four alleles of the murine aryl hydrocarbon receptor.	GP00001810	Ahr P30561	Physiology	alanine at position 375 mutated into valine; decreases the affinity 4-fold	Mus musculus house mouse - (species)	Mus musculus house mouse - (species)	AHR	Mus musculus house mouse - (species)	Published - Accepted by Curator
AHR	Xenobiotic resistance (dioxins; polycyclic aromatic hydrocarbons; TCDD)	2 Mutations: Coding SNP	Sterna hirundo hirundo (subspecies) D	Intergeneric or Higher	Candidate Gene	Karchner SI; Franks DG; Kennedy SW ; et al. (2006) The molecular basis for differential dioxin sensitivity in birds: role of the aryl hydrocarbon recep[...] 1 Additional References Head JA; Hahn ME; Kennedy SW (2008) Key amino acids in the aryl hydrocarbon receptor predict dioxin sensitivity in avian species.	GP00001811	Ahr P30561	Physiology	2 mutations	Gallus gallus chicken - (species)	Sterna hirundo hirundo (subspecies) D	AHR	Sterna hirundo hirundo (subspecies)	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 Moffat ID; Roblin S; Harper PA (2007) Aryl hydrocarbon receptor splice variants in the dioxin-resistant rat: tissue expression and transac[...] Pohjanvirta R; Wong JM; Li W (1998) Point mutation in intron sequence causes altered carboxyl-terminal structure in the aryl hydrocarbon[...]	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
AIM22	F2 lethality	Coding, SNP	Saccharomyces bayanus (species)	Interspecific	Linkage Mapping	Chou JY; Hung YS; Lin KH ; et al. (2010) Multiple molecular mechanisms cause reproductive isolation between three yeast species.	GP00000073	AIM22 P47051	Physiology	Several candidate non-synonymous changes - exact causing mutation(s) unknown	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces bayanus (species)	AIM22	Saccharomyces bayanus (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 Laurie CC; Bridgham JT; Choudhary M (1991) Associations between DNA sequence variation and variation in expression of the Adh gene in natural p[...] King EG; Merkes CM; McNeil CL (2012) Genetic dissection of a model complex trait using the Drosophila Synthetic Population Resource. Siddiq MA; Loehlin DW; Montooth KL (2017) Experimental test and refutation of a classic case of molecular adaptation in Drosophila melanogaste[...] Loehlin DW; Ames JR; Vaccaro K (2019) A major role for noncoding regulatory mutations in the evolution of enzyme activity.	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)	4 Mutations:	Drosophila yakuba (species)	Interspecific	Candidate Gene	Loehlin DW; Ames JR; Vaccaro K ; et al. (2019) A major role for noncoding regulatory mutations in the evolution of enzyme activity.	GP00001963	Adh P00334	Physiology	4 mutations	Drosophila santomea (species)	Drosophila yakuba (species)	alcohol dehydrogenase (Adh)	Drosophila yakuba (species)	Published - Accepted by Curator
alcohol dehydrogenase (Adh)	Xenobiotic resistance (alcohol)	4 Mutations:	Drosophila erecta (species)	Interspecific	Candidate Gene	Loehlin DW; Ames JR; Vaccaro K ; et al. (2019) A major role for noncoding regulatory mutations in the evolution of enzyme activity.	GP00001964	Adh P00334	Physiology	4 mutations	Drosophila orena (species)	Drosophila erecta (species)	alcohol dehydrogenase (Adh)	Drosophila erecta (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 ADH1B47His allele in eastern and [...] 1 Additional References Li H; Mukherjee N; Soundararajan U (2007)* Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and [...]	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
Alk / Starch Synthase II	Grain cooking texture	4 Mutations: Coding SNP	Oryza sativa rice - (species) D	Domesticated	Linkage Mapping	Umemoto T; Yano M; Satoh H ; et al. (2002) Mapping of a gene responsible for the difference in amylopectin structure between japonica-type and [...] 2 Additional References Nakamura Y; Francisco PB; Hosaka Y (2005) Essential amino acids of starch synthase IIa differentiate amylopectin structure and starch quality [...] Huang X; Wei X; Sang T (2010) Genome-wide association studies of 14 agronomic traits in rice landraces.	GP00000078	SSII-3 Q0DDE3	Physiology	4 mutations	Oryza sativa rice - (species)	Oryza sativa rice - (species) D	Alk / Starch Synthase II	Oryza sativa rice - (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
AMN1	Cell separation	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species)	Domesticated	Linkage Mapping	Yvert G; Brem RB; Whittle J ; et al. (2003) Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors.	GP00000082	AMN1 P38285	Physiology	D368V	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species)	AMN1	Saccharomyces cerevisiae baker's yeast - (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, SNP N	Petunia axillaris (species)	Interspecific	Candidate Gene	Hoballah ME; Gübitz T; Stuurman J ; et al. (2007) Single gene-mediated shift in pollinator attraction in Petunia.	GP00000093	AN2 A4GRU8	Morphology	1 aa substitution; premature stop N	Petunia integrifolia (species)	Petunia axillaris (species)	anthocyanin2 (an2)	Petunia axillaris (species)	Published - Accepted by Curator
anthocyanin2 (an2)	Coloration (flowers)	Coding, SNP N	Petunia axillaris (species)	Interspecific	Candidate Gene	Hoballah ME; Gübitz T; Stuurman J ; et al. (2007) Single gene-mediated shift in pollinator attraction in Petunia.	GP00000094	AN2 A4GRU8	Morphology	1 aa substitution; premature stop N	Petunia integrifolia (species)	Petunia axillaris (species)	anthocyanin2 (an2)	Petunia axillaris (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
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
Aquaporin	Water transport (selective accumulation of water or glycerol)	Coding, SNP	Polypedilum vanderplanki sleeping chironomid - (species)	Interspecific	Candidate Gene	Finn RN; Chauvigné F; Stavang JA ; et al. (2015) Insect glycerol transporters evolved by functional co-option and gene replacement.	GP00001421	AQP1 P29972	Physiology	p.His174Ala	Blattella germanica German cockroach - (species)	Polypedilum vanderplanki sleeping chironomid - (species)	Aquaporin	Polypedilum vanderplanki sleeping chironomid - (species)	Published - Accepted by Curator
Aquaporin (AQY1)	Growth rate (environment-dependent)	2 Mutations: Coding SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Domesticated	Linkage Mapping	Will JL; Kim HS; Clarke J ; et al. (2010) Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...] 1 Additional References Bonhivers M; Carbrey JM; Gould SJ (1998) Aquaporins in Saccharomyces. Genetic and functional distinctions between laboratory and wild-type st[...]	GP00001872	AQP1 P29972	Physiology	2 mutations	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	Aquaporin (AQY1)	Saccharomyces cerevisiae baker's yeast - (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
ARHGAP15	Pathogen resistance (Trypanosoma)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Noyes H; Brass A; Obara I ; et al. (2011) Genetic and expression analysis of cattle identifies candidate genes in pathways responding to Trypa[...]	GP00000103	Arhgap15 Q811M1	Physiology	H282P	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	ARHGAP15	Bos taurus cattle - (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
ASP1	Acetic acid production	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species)	Domesticated	Linkage Mapping	Marullo P; Aigle M; Bely M ; et al. (2007) Single QTL mapping and nucleotide-level resolution of a physiologic trait in wine Saccharomyces cere[...]	GP00000104	APS1 P35181	Physiology	Asp142His	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species)	ASP1	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, SNP N	Arabidopsis thaliana thale cress - (species)	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000117	GA20OX1 Q39110	Morphology	W46* N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, SNP N	Arabidopsis thaliana thale cress - (species)	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...] 1 Additional References Xu YL; Li L; Wu K (1995) The GA5 locus of Arabidopsis thaliana encodes a multifunctional gibberellin 20-oxidase: molecular cl[...]	GP00000118	GA20OX1 Q39110	Morphology	W271* -G816A according to Fig.3 of Xu et al. 1995 N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, SNP N	Arabidopsis thaliana thale cress - (species)	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000119	GA20OX1 Q39110	Morphology	E312* N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	2 Mutations: Coding SNP	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000120	GA20OX1 Q39110	Morphology	2 mutations	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism) Plant size (dwarfism)	2 Mutations: Coding SNP	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000121	GA20OX1 Q39110	Morphology Morphology	2 mutations	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	2 Mutations: Coding SNP	Arabidopsis thaliana thale cress - (species) D	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000122	GA20OX1 Q39110	Morphology	2 mutations	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species) D	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	Coding, SNP	Arabidopsis thaliana thale cress - (species)	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00000123	GA20OX1 Q39110	Morphology	Splice Site mutation G742A	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	AtGA20ox1 (=GA5=Sd1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)	Plant size (dwarfism)	2 Mutations: Coding SNP	Arabidopsis thaliana thale cress - (species)	Domesticated	Linkage Mapping	Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013) Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]	GP00001685	GA20OX1 Q39110	Morphology	2 mutations	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	AtGA20ox1 (=GA5=Sd1)	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 Symonds VV; Godoy AV; Alconada T (2005) Mapping quantitative trait loci in multiple populations of Arabidopsis thaliana identifies natural a[...]	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
ATP4B	Digestion (absence of stomach)	3 Mutations: Coding N	Ornithorhynchus anatinus platypus - (species) D	Intergeneric or Higher	Candidate Gene	Ordoñez GR; Hillier LW; Warren WC ; et al. (2008) Loss of genes implicated in gastric function during platypus evolution.	GP00001909	ATP4B P51164	Physiology	3 mutations	Monodelphis domestica gray short-tailed opossum - (species) Homo sapiens human - (species)	Ornithorhynchus anatinus platypus - (species) D	ATP4B	Ornithorhynchus anatinus platypus - (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 Allen RL; Meitz JC; Baumber RE (2008) Natural variation reveals key amino acids in a downy mildew effector that alters recognition specifi[...]	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
BADH2	Fragrance	Coding, SNP	Glycine max soybean - (species)	Domesticated	Linkage Mapping	Juwattanasomran R; Somta P; Chankaew S ; et al. (2011) A SNP in GmBADH2 gene associates with fragrance in vegetable soybean variety "Kaori" and SNAP marker[...]	GP00000133	BADH2 Q84LK3	Physiology	1 amino-acid substitution in conserved enzymatic domain	Glycine max soybean - (species)	Glycine max soybean - (species)	BADH2	Glycine max soybean - (species)	Published - Accepted by Curator
BADH2	Fragrance	Coding, SNP N	Oryza sativa rice - (species) D	Domesticated	Candidate Gene	Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009) The origin and evolution of fragrance in rice (Oryza sativa L.).	GP00001775	BADH2 Q84LK3	Physiology	G>T substitution in exon 10 - need to check the sequence to check if this mutation is nonsense or nonsynonymous N	Oryza sativa rice - (species)	Oryza sativa rice - (species) D	BADH2	Oryza sativa rice - (species)	Published - Accepted by Curator
BADH2	Fragrance	Coding, SNP N	Oryza sativa rice - (species) D	Domesticated	Candidate Gene	Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009) The origin and evolution of fragrance in rice (Oryza sativa L.).	GP00001776	BADH2 Q84LK3	Physiology	G>T substitution in exon 14 - need to check the sequence to check if this mutation is nonsense or nonsynonymous N	Oryza sativa rice - (species)	Oryza sativa rice - (species) D	BADH2	Oryza sativa rice - (species)	Published - Accepted by Curator
BADH2	Fragrance	Coding, SNP N	Oryza sativa rice - (species) D	Domesticated	Candidate Gene	Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009) The origin and evolution of fragrance in rice (Oryza sativa L.).	GP00001777	BADH2 Q84LK3	Physiology	C>T substitution in exon 13 - need to check the sequence to check if this mutation is nonsense or nonsynonymous N	Oryza sativa rice - (species)	Oryza sativa rice - (species) D	BADH2	Oryza sativa rice - (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
BCMO1	Carotenoid content	2 Mutations: Cis-regulatory SNP	Gallus gallus chicken - (species)	Domesticated	Linkage Mapping	Le Bihan-Duval E; Nadaf J; Berri C ; et al. (2011) Detection of a Cis [corrected] eQTL controlling BCMO1 gene expression leads to the identification of[...]	GP00000137	BCO1 Q9HAY6	Morphology; Physiology	2 mutations	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	BCMO1	Gallus gallus chicken - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Carotenoid content	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Berry SD; Davis SR; Beattie EM ; et al. (2009) Mutation in bovine beta-carotene oxygenase 2 affects milk color. 1 Additional References Tian R; Pitchford WS; Morris CA (2010) Genetic variation in the beta, beta-carotene-9', 10'-dioxygenase gene and association with fat colou[...]	GP00000138	BCO2 Q9BYV7	Physiology	Substitution creating premature Stop (codon 79) N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	BCO2 = beta-carotene oxygenase 2	Bos taurus cattle - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Carotenoid content	Coding, SNP N	Ovis aries sheep - (species)	Domesticated	Candidate Gene	Våge DI; Boman IA (2010) A nonsense mutation in the beta-carotene oxygenase 2 (BCO2) gene is tightly associated with accumula[...]	GP00000140	BCO2 Q9BYV7	Physiology	Substitution creating premature Stop (codon 66) N	Ovis aries sheep - (species)	Ovis aries sheep - (species)	BCO2 = beta-carotene oxygenase 2	Ovis aries sheep - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Carotenoid content (bill, legs)	Coding, SNP N	Serinus canaria common canary - (species) D	Domesticated	Association Mapping	Gazda MA; Toomey MB; Araújo PM ; et al. (2020) GENETIC BASIS OF DE NOVO APPEARANCE OF CAROTENOID ORNAMENTATION IN BARE-PARTS OF CANARIES.	GP00002039	BCO2 Q9BYV7	Morphology	point mutation at nucleotide position 837,806 that is predicted to be a nonsynonymous mutation in the exon 9 of the BCO2 gene. This variant results in the substitution of a histidine for an arginine at residue 413 of the protein (R413H) . In silico analysis suggests that the R413H could cause structural distortion of the protein and lead to a possible loss of activity. In vitro assays with the urucum BCO2 variant show that the enzyme activity is lost. N	Serinus canaria common canary - (species)	Serinus canaria common canary - (species) D	BCO2 = beta-carotene oxygenase 2	Serinus canaria common canary - (species)	Published - Accepted by Curator
beta-casein	Milk protein content (casein)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Gallinat JL; Qanbari S; Drögemüller C ; et al. (2013) DNA-based identification of novel bovine casein gene variants.	GP00002025	CSN2 P02666	Physiology	g.87181619A>C c.245A>C p.H82P CAT>CCT	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	beta-casein	Bos taurus cattle - (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 Keurentjes JJ; Fu J; de Vos CH (2006) The genetics of plant metabolism.	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, 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 Keurentjes JJ; Fu J; de Vos CH (2006) The genetics of plant metabolism.	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, 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 Keurentjes JJ; Fu J; de Vos CH (2006) The genetics of plant metabolism.	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 Hahnel SR; Zdraljevic S; Rodriguez BC (2018) Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]	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 Hahnel SR; Zdraljevic S; Rodriguez BC (2018) Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]	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 Hahnel SR; Zdraljevic S; Rodriguez BC (2018) Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]	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 Hahnel SR; Zdraljevic S; Rodriguez BC (2018) Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]	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 Hahnel SR; Zdraljevic S; Rodriguez BC (2018) Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]	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 Hahnel SR; Zdraljevic S; Rodriguez BC (2018) Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]	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 Fujimura M; Oeda K; Inoue H (1990 ) Mechanism of action of N-phenylcarbamates in benzimidazole-resistant Neurospora strains	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 Fujimura M; Oeda K; Inoue H (1990 ) Mechanism of action of N-phenylcarbamates in benzimidazole-resistant Neurospora strains	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 Fujimura M; Oeda K; Inoue H (1990 ) Mechanism of action of N-phenylcarbamates in benzimidazole-resistant Neurospora strains	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 Fujimura M; Oeda K; Inoue H (1990 ) Mechanism of action of N-phenylcarbamates in benzimidazole-resistant Neurospora strains	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 Fujimura M; Oeda K; Inoue H (1990 ) Mechanism of action of N-phenylcarbamates in benzimidazole-resistant Neurospora strains	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 Fujimura M; Oeda K; Inoue H (1990 ) Mechanism of action of N-phenylcarbamates in benzimidazole-resistant Neurospora strains	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 Fujimura M; Oeda K; Inoue H (1990 ) Mechanism of action of N-phenylcarbamates in benzimidazole-resistant Neurospora strains	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 Fujimura M; Oeda K; Inoue H (1990 ) Mechanism of action of N-phenylcarbamates in benzimidazole-resistant Neurospora strains	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 Fujimura M; Oeda K; Inoue H (1990 ) Mechanism of action of N-phenylcarbamates in benzimidazole-resistant Neurospora strains	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 Fujimura M; Oeda K; Inoue H (1990 ) Mechanism of action of N-phenylcarbamates in benzimidazole-resistant Neurospora strains	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 Fujimura M; Oeda K; Inoue H (1990 ) Mechanism of action of N-phenylcarbamates in benzimidazole-resistant Neurospora strains	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 Hahnel SR; Zdraljevic S; Rodriguez BC (2018) Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]	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 Silvestre A; Cabaret J (2002) Mutation in position 167 of isotype 1 beta-tubulin gene of Trichostrongylid nematodes: role in benzi[...] Li J; Katiyar SK; Edlind TD (1996) Site-directed mutagenesis of Saccharomyces cerevisiae beta-tubulin: interaction between residue 167 [...]	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 Li J; Katiyar SK; Edlind TD (1996) Site-directed mutagenesis of Saccharomyces cerevisiae beta-tubulin: interaction between residue 167 [...]	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 Fujimura Makoto; Kamakura Takashi; Inoue Hirokazu (1992 ) Sensitivity of Neurospora crassa to benzimidazoles and N-phenylcarbamates: effect of amino acid subs[...]	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 Fujimura Makoto; Kamakura Takashi; Inoue Hirokazu (1992 ) Sensitivity of Neurospora crassa to benzimidazoles and N-phenylcarbamates: effect of amino acid subs[...]	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 Fujimura Makoto; Kamakura Takashi; Inoue Hirokazu (1992 ) Sensitivity of Neurospora crassa to benzimidazoles and N-phenylcarbamates: effect of amino acid subs[...]	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 Fujimura Makoto; Kamakura Takashi; Inoue Hirokazu (1992 ) Sensitivity of Neurospora crassa to benzimidazoles and N-phenylcarbamates: effect of amino acid subs[...]	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 Fujimura Makoto; Kamakura Takashi; Inoue Hirokazu (1992 ) Sensitivity of Neurospora crassa to benzimidazoles and N-phenylcarbamates: effect of amino acid subs[...]	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 Fujimura Makoto; Kamakura Takashi; Inoue Hirokazu (1992 ) Sensitivity of Neurospora crassa to benzimidazoles and N-phenylcarbamates: effect of amino acid subs[...]	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 Fujimura Makoto; Kamakura Takashi; Inoue Hirokazu (1992 ) Sensitivity of Neurospora crassa to benzimidazoles and N-phenylcarbamates: effect of amino acid subs[...]	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, 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, 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, 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, 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, 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 (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 Hahnel SR; Zdraljevic S; Rodriguez BC (2018) Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]	GP00001787	TUB2 P02557	Physiology	Phe200Tyr	Aspergillus nidulans (species)	Aspergillus nidulans (species) D	beta-tubulin (ben4)	Aspergillus nidulans (species)	Published - Accepted by Curator
BMH1	Growth rate (time to diauxic shift)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Spor A; Kvitek DJ; Nidelet T ; et al. (2014) Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]	GP00001488	BMH1 P29311	Physiology	C>G p.Y216* heterozygous. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	BMH1	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
BMH1	Growth rate (time to diauxic shift)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Spor A; Kvitek DJ; Nidelet T ; et al. (2014) Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]	GP00001489	BMH1 P29311	Physiology	G>T p.E214*. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	BMH1	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
BMH1	Growth rate (time to diauxic shift)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Spor A; Kvitek DJ; Nidelet T ; et al. (2014) Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]	GP00001490	BMH1 P29311	Physiology	A>T p.K217* (2 times independently). Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	BMH1	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
BMH1	Growth rate (time to diauxic shift)	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Spor A; Kvitek DJ; Nidelet T ; et al. (2014) Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]	GP00001491	BMH1 P29311	Physiology	G>A p.D101N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	BMH1	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
BMH1	Growth rate (time to diauxic shift)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Spor A; Kvitek DJ; Nidelet T ; et al. (2014) Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]	GP00001492	BMH1 P29311	Physiology	T>G p.L230* heterozygous. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	BMH1	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
BMH1	Growth rate (time to diauxic shift)	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Spor A; Kvitek DJ; Nidelet T ; et al. (2014) Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]	GP00001493	BMH1 P29311	Physiology	C>A p.N178K located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase PP1-2 and Heat shock protein Ssb1)	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	BMH1	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
BMH1	Growth rate (time to diauxic shift)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Spor A; Kvitek DJ; Nidelet T ; et al. (2014) Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]	GP00001494	BMH1 P29311	Physiology	G>T p.E214*. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	BMH1	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
BMH1	Growth rate (time to diauxic shift)	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Spor A; Kvitek DJ; Nidelet T ; et al. (2014) Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]	GP00001495	BMH1 P29311	Physiology	G>T p.G174V homozygous functionally disruptive located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	BMH1	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
BMH1	Growth rate (time to diauxic shift)	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Spor A; Kvitek DJ; Nidelet T ; et al. (2014) Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]	GP00001496	BMH1 P29311	Physiology	G>A p.G174D located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase PP1-2 and Heat shock protein Ssb1)	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	BMH1	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
BMH1	Growth rate (time to diauxic shift)	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Spor A; Kvitek DJ; Nidelet T ; et al. (2014) Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]	GP00001497	BMH1 P29311	Physiology	A>G p.N178S homozygous functionally disruptive located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	BMH1	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
BMH1	Growth rate (time to diauxic shift)	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Spor A; Kvitek DJ; Nidelet T ; et al. (2014) Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]	GP00001498	BMH1 P29311	Physiology	G>A p.G55D located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase PP1-2 and Heat shock protein Ssb1)	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	BMH1	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
BMP receptor IB (BMPRIB)	Fertility (increased ovulation rate)	Coding, SNP	Ovis aries sheep - (species)	Domesticated	Linkage Mapping	Mulsant P; Lecerf F; Fabre S ; et al. (2001) Mutation in bone morphogenetic protein receptor-IB is associated with increased ovulation rate in Bo[...]	GP00000146	BMPR-IB Q9BDI4	Physiology	Q259R	Ovis aries sheep - (species)	Ovis aries sheep - (species)	BMP receptor IB (BMPRIB)	Ovis aries sheep - (species)	Published - Accepted by Curator
BMP15	Fertility (increased ovulation rate)	Coding, SNP N	Ovis aries sheep - (species)	Domesticated	Linkage Mapping	Galloway SM; McNatty KP; Cambridge LM ; et al. (2000) Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and inferti[...]	GP00000147	Bmp15 Q9Z0L4	Physiology	Q23*; CAG - > TAG N	Ovis aries sheep - (species)	Ovis aries sheep - (species)	BMP15	Ovis aries sheep - (species)	Published - Accepted by Curator
BMP15	Fertility (increased ovulation rate)	Coding, SNP	Ovis aries sheep - (species)	Domesticated	Linkage Mapping	Galloway SM; McNatty KP; Cambridge LM ; et al. (2000) Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and inferti[...]	GP00000148	Bmp15 Q9Z0L4	Physiology	V31D; in a very conserved region across other animals	Ovis aries sheep - (species)	Ovis aries sheep - (species)	BMP15	Ovis aries sheep - (species)	Published - Accepted by Curator
BMP15	Fertility (increased ovulation rate)	Coding, SNP	Ovis aries sheep - (species)	Domesticated	Association Mapping	Demars J; Fabre S; Sarry J ; et al. (2013) Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]	GP00000149	Bmp15 Q9Z0L4	Physiology	T317I	Ovis aries sheep - (species)	Ovis aries sheep - (species)	BMP15	Ovis aries sheep - (species)	Published - Accepted by Curator
BMP15	Fertility (increased ovulation rate)	Coding, SNP	Ovis aries sheep - (species)	Domesticated	Association Mapping	Demars J; Fabre S; Sarry J ; et al. (2013) Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]	GP00000150	Bmp15 Q9Z0L4	Physiology	N337H	Ovis aries sheep - (species)	Ovis aries sheep - (species)	BMP15	Ovis aries sheep - (species)	Published - Accepted by Curator
BMP3 or PRKG2	Cranio-facial morphology	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Schoenebeck JJ; Hutchinson SA; Byers A ; et al. (2012) Variation of BMP3 contributes to dog breed skull diversity.	GP00000152	Bmp3 Q8BHE5	Morphology	F452L in BMP3 ; this missense mutation is in a conserved position and correlates well with small breeds. However; the functional data (zebrafish BMP3 morpholino knockdown) proposed in this article is inconsistent with the mice BMP3 null-mutation	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	BMP3 or PRKG2	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
BRANCHED1a (BRC1a)	Plant architecture Inflorescence architecture	Coding, SNP	Solanum (genus) D	Intergeneric or Higher	Candidate Gene	Nicolas M; Rodríguez-Buey ML; Franco-Zorrilla JM ; et al. (2015) A Recently Evolved Alternative Splice Site in the BRANCHED1a Gene Controls Potato Plant Architecture[...]	GP00000156	BRC1A F6KB94	Morphology Morphology	Evolution of an alternative splice site (G>A) that unlocks a short isoform	Capsicum annuum (species)	Solanum (genus) D	BRANCHED1a (BRC1a)	Solanum (genus)	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
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
BUL2	Telomere length Aging	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species)	Domesticated	Linkage Mapping	Kwan EX; Foss E; Kruglyak L ; et al. (2011) Natural polymorphism in BUL2 links cellular amino acid availability with chronological aging and tel[...]	GP00000166	BUL2 Q03758	Physiology Physiology	Leu883Phe	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species)	BUL2	Saccharomyces cerevisiae baker's yeast - (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
Callipyge (CLPG1)	Muscular mass (with paternal effect)	Cis-regulatory, SNP	Ovis aries sheep - (species)	Domesticated	Linkage Mapping	Takeda H; Caiment F; Smit M ; et al. (2006) The callipyge mutation enhances bidirectional long-range DLK1-GTL2 intergenic transcription in cis. 5 Additional References Freking BA; Murphy SK; Wylie AA (2002) Identification of the single base change causing the callipyge muscle hypertrophy phenotype, the onl[...] Murphy SK; Nolan CM; Huang Z (2006) Callipyge mutation affects gene expression in cis: a potential role for chromatin structure. Smit M; Segers K; Carrascosa LG (2003) Mosaicism of Solid Gold supports the causality of a noncoding A-to-G transition in the determinism o[...] Georges M; Charlier C; Cockett N (2003) The callipyge locus: evidence for the trans interaction of reciprocally imprinted genes. Gao YQ; Chen X; Wang P (2015) Regulation of DLK1 by the maternally expressed miR-379/miR-544 cluster may underlie callipyge polar [...]	GP00000168	DIO3 Q6DN07	Morphology	1bp change in the regulatory region of the DLK1-GTL2 imprinted gene cluster	Ovis aries sheep - (species)	Ovis aries sheep - (species)	Callipyge (CLPG1)	Ovis aries sheep - (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
cathepsin E	Digestion (absence of stomach)	2 Mutations: Coding N	Ornithorhynchus anatinus platypus - (species) D	Intergeneric or Higher	Candidate Gene	Ordoñez GR; Hillier LW; Warren WC ; et al. (2008) Loss of genes implicated in gastric function during platypus evolution.	GP00001910	CTSE P14091	Physiology	2 mutations	Monodelphis domestica gray short-tailed opossum - (species) Homo sapiens human - (species)	Ornithorhynchus anatinus platypus - (species) D	cathepsin E	Ornithorhynchus anatinus platypus - (species)	Published - Accepted by Curator
Cauliflower (BoCAL)	Inflorescence morphology	Coding, SNP N	Brassica oleracea var. botrytis (varietas) D	Domesticated	Candidate Gene	Kempin SA; Savidge B; Yanofsky MF (1995) Molecular basis of the cauliflower phenotype in Arabidopsis. 1 Additional References Purugganan MD; Boyles AL; Suddith JI (2000) Variation and selection at the CAULIFLOWER floral homeotic gene accompanying the evolution of domest[...]	GP00000173	CAL Q39081	Morphology	GAG>TAG; E151*; protein truncated after only 150 of the 255 amino acids of the wild-type protein N	Brassica oleracea wild cabbage - (species)	Brassica oleracea var. botrytis (varietas) D	Cauliflower (BoCAL)	Brassica oleracea var. botrytis (varietas)	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
CENTRORADIALIS (HvCEN)	Flowering time Seasonal growth	Coding, SNP	Hordeum vulgare (species)	Domesticated	Linkage Mapping	Comadran J; Kilian B; Russell J ; et al. (2012) Natural variation in a homolog of Antirrhinum CENTRORADIALIS contributed to spring growth habit and [...]	GP00000179	CEN Q9ZNV5	Physiology Physiology	P135A	Hordeum vulgare (species)	Hordeum vulgare (species)	CENTRORADIALIS (HvCEN)	Hordeum vulgare (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 Van Leeuwen T; Demaeght P; Osborne EJ (2012) Population bulk segregant mapping uncovers resistance mutations and the mode of action of a chitin s[...]	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
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
CHRNA1	Xenobiotic resistance (snake venom)	2 Mutations: Coding SNP	Erinaceus concolor southern white-breasted hedgehog - (species) D Erinaceus europaeus western European hedgehog - (species) D	Intergeneric or Higher	Candidate Gene	Drabeck DH; Dean AM; Jansa SA (2015) Why the honey badger don't care: Convergent evolution of venom-targeted nicotinic acetylcholine rece[...]	GP00000183	CHRNA1 P02708	Physiology	2 mutations	Carnivora carnivores - (order)	Erinaceus concolor southern white-breasted hedgehog - (species) D Erinaceus europaeus western European hedgehog - (species) D	CHRNA1	Erinaceus concolor southern white-breasted hedgehog - (species) Erinaceus europaeus western European hedgehog - (species)	Published - Accepted by Curator
CHRNA1	Xenobiotic resistance (snake venom)	2 Mutations: Coding SNP	Mellivora capensis ratel - (species) D	Intergeneric or Higher	Candidate Gene	Drabeck DH; Dean AM; Jansa SA (2015) Why the honey badger don't care: Convergent evolution of venom-targeted nicotinic acetylcholine rece[...]	GP00000184	CHRNA1 P02708	Physiology	2 mutations	Carnivora carnivores - (order)	Mellivora capensis ratel - (species) D	CHRNA1	Mellivora capensis ratel - (species)	Published - Accepted by Curator
CHRNA1	Xenobiotic resistance (snake venom)	4 Mutations: Coding SNP	Herpestes ichneumon Egyptian mongoose - (species) D	Intergeneric or Higher	Candidate Gene	Barchan D; Kachalsky S; Neumann D ; et al. (1992) How the mongoose can fight the snake: the binding site of the mongoose acetylcholine receptor. 2 Additional References Kachalsky SG; Jensen BS; Barchan D (1995) Two subsites in the binding domain of the acetylcholine receptor: an aromatic subsite and a proline [...] Barchan D; Kachalsky S; Neumann D (1992) How the mongoose can fight the snake: the binding site of the mongoose acetylcholine receptor.	GP00001686	CHRNA1 P02708	Physiology	4 mutations	Carnivora carnivores - (order)	Herpestes ichneumon Egyptian mongoose - (species) D	CHRNA1	Herpestes ichneumon Egyptian mongoose - (species)	Published - Accepted by Curator
CHRNA1	Xenobiotic resistance (snake venom)	Coding, SNP	Naja haje (species) D	Intergeneric or Higher	Candidate Gene	Takacs Z; Wilhelmsen KC; Sorota S (2004) Cobra ( Naja spp. ) nicotinic acetylcholine receptor exhibits resistance to Erabu sea snake ( Latica[...]	GP00001720	CHRNA1 P02708	Physiology	Phe189Asn - The inhibitory effect on the pharmacological action of the toxin is primarily attributed to the presence of glycosylation at position N189.	Carnivora carnivores - (order)	Naja haje (species) D	CHRNA1	Naja haje (species)	Published - Accepted by Curator
CHRNA1	Xenobiotic resistance (snake venom)	2 Mutations: Coding SNP	Sus scrofa pig - (species) D	Intergeneric or Higher	Candidate Gene	Drabeck DH; Dean AM; Jansa SA (2015) Why the honey badger don't care: Convergent evolution of venom-targeted nicotinic acetylcholine rece[...]	GP00001721	CHRNA1 P02708	Physiology	2 mutations	Carnivora carnivores - (order)	Sus scrofa pig - (species) D	CHRNA1	Sus scrofa pig - (species)	Published - Accepted by Curator
Cinnamate-CoA ligase 1 (CNL1)	Fragrance	3 Mutations: N	Petunia exserta (species) D	Interspecific	Linkage Mapping	Amrad A; Moser M; Mandel T ; et al. (2016) Gain and Loss of Floral Scent Production through Changes in Structural Genes during Pollinator-Media[...]	GP00001391	CNL A0A172W603	Physiology	3 mutations	Petunia axillaris (species)	Petunia exserta (species) D	Cinnamate-CoA ligase 1 (CNL1)	Petunia exserta (species)	Published - Accepted by Curator
Cinnamate-CoA ligase 1 (CNL1)	Fragrance	Coding, SNP N	Capsella rubella (species) D	Interspecific	Linkage Mapping	Sas C; Müller F; Kappel C ; et al. (2016) Repeated Inactivation of the First Committed Enzyme Underlies the Loss of Benzaldehyde Emission afte[...]	GP00001767	CNL A0A172W603	Physiology	serine-to-arginine exchange at position 453 (T-to-A nucleotide exchange at genomic position 7 539 424) - this mutation is located immediately next to highly conserved amino acids predicted to be involved in adenosine monophosphate and coenzyme A binding; it involves two biochemically very dissimilar amino acids; and the serine at this position is conserved N	Capsella grandiflora (species)	Capsella rubella (species) D	Cinnamate-CoA ligase 1 (CNL1)	Capsella rubella (species)	Published - Accepted by Curator
cly1	Pollen shedding (Cleistogamy; lodicule size)	Cis-regulatory, SNP	Hordeum vulgare (species) D	Domesticated	Linkage Mapping	Nair SK; Wang N; Turuspekov Y ; et al. (2010) Cleistogamous flowering in barley arises from the suppression of microRNA-guided HvAP2 mRNA cleavage[...] 1 Additional References Turuspekov Y; Mano Y; Honda I (2004) Identification and mapping of cleistogamy genes in barley.	GP00001314	AP2 P47927	Morphology	A>G @position 3084; in a miRNA targeting site.	Hordeum vulgare (species)	Hordeum vulgare (species) D	cly1	Hordeum vulgare (species)	Published - Accepted by Curator
cly1	Pollen shedding (Cleistogamy; lodicule size)	Cis-regulatory, SNP	Hordeum vulgare (species) D	Domesticated	Linkage Mapping	Nair SK; Wang N; Turuspekov Y ; et al. (2010) Cleistogamous flowering in barley arises from the suppression of microRNA-guided HvAP2 mRNA cleavage[...] 1 Additional References Turuspekov Y; Mano Y; Honda I (2004) Identification and mapping of cleistogamy genes in barley.	GP00001315	AP2 P47927	Morphology	A>C @position 3090; in a miRNA targeting site.	Hordeum vulgare (species)	Hordeum vulgare (species) D	cly1	Hordeum vulgare (species)	Published - Accepted by Curator
CmACS-7	Flower sex determination (male organs)	Coding, SNP	Cucumis melo muskmelon - (species)	Domesticated	Linkage Mapping	Boualem A; Fergany M; Fernandez R ; et al. (2008) A conserved mutation in an ethylene biosynthesis enzyme leads to andromonoecy in melons.	GP00000187	ACS7 Q9STR4	Physiology	A57V	Cucumis melo muskmelon - (species)	Cucumis melo muskmelon - (species)	CmACS-7	Cucumis melo muskmelon - (species)	Published - Accepted by Curator
coatomer protein complex subunit alpha (COPA)	Coloration (coat)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Dorshorst B; Henegar C; Liao X ; et al. (2015) Dominant Red Coat Color in Holstein Cattle Is Associated with a Missense Mutation in the Coatomer Pr[...]	GP00001329	COPA P53621	Morphology	c.C>T p.Arg160Cys	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	coatomer protein complex subunit alpha (COPA)	Bos taurus cattle - (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
COX18	Low-glucose adaptation (experimental evolution)	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Kao KC; Sherlock G (2008) Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...] 1 Additional References Kvitek DJ; Sherlock G (2011) Reciprocal sign epistasis between frequently experimentally evolved adaptive mutations causes a rugg[...]	GP00001708	COX18 P53239	Physiology	Leu59His (T>A at position 617107 according to Table 1) - CTY to CAY position 617107	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	COX18	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
Cpm1	Xenobiotic resistance (insecticide; toxin produced by Bacillus sphaericus)	Coding, SNP N	Culex pipiens northern house mosquito - (species) D	Intraspecific	Candidate Gene	Darboux I; Charles JF; Pauchet Y ; et al. (2007) Transposon-mediated resistance to Bacillus sphaericus in a field-evolved population of Culex pipiens[...]	GP00002102	Q95WY5	Physiology	Gln396Stop - nonsense mutation which causes the loss of the C-terminal domain required for a proper anchoring of the receptor to the cell surface and thus disrupts a crucial step in the toxic properties of B. sphaericus toxin. N	Culex pipiens northern house mosquito - (species)	Culex pipiens northern house mosquito - (species) D	Cpm1	Culex pipiens northern house mosquito - (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 Olsen KM; Halldorsdottir SS; Stinchcombe JR (2004) Linkage disequilibrium mapping of Arabidopsis CRY2 flowering time alleles. el-Assal SE; Alonso-Blanco C; Hanhart CJ (2004) Pleiotropic effects of the Arabidopsis cryptochrome 2 allelic variation underlie fruit trait-related[...] Botto JF; Alonso-Blanco C; Garzarón I (2003) The Cape Verde Islands allele of cryptochrome 2 enhances cotyledon unfolding in the absence of blue [...]	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
CYC8	Salt tolerance (experimental evolution)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Anderson JB; Funt J; Thompson DA ; et al. (2010) Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...] 1 Additional References Parreiras LS; Kohn LM; Anderson JB (2011) Cellular effects and epistasis among three determinants of adaptation in experimental populations of[...]	GP00000195	CYC8 P14922	Physiology	1bp substitution resulting in premature stop codon N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	CYC8	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
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
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
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 Cha PC; Mushiroda T; Takahashi A (2010) Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanes[...]	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 Cha PC; Mushiroda T; Takahashi A (2010) Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanes[...]	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
CYP6B1	Xenobiotic resistance Host plant specialization	Coding, SNP	Papilio polyxenes black swallowtail - (species)	Interspecific	Candidate Gene	Li W; Schuler MA; Berenbaum MR (2003) Diversification of furanocoumarin-metabolizing cytochrome P450 monooxygenases in two papilionids: Sp[...]	GP00000205	CYP6B1 Q04552	Physiology Physiology	Ile484Phe and probably other a.a. substitutions	Nymphalidae brushfoots - (family)	Papilio polyxenes black swallowtail - (species)	CYP6B1	Papilio polyxenes black swallowtail - (species)	Published - Accepted by Curator
CYP6B4	Xenobiotic resistance Host plant specialization	Coding, SNP	Papilio glaucus eastern tiger swallowtail - (species)	Intergeneric or Higher	Candidate Gene	Mao W; Schuler MA; Berenbaum MR (2007) Cytochrome P450s in Papilio multicaudatus and the transition from oligophagy to polyphagy in the Pap[...]	GP00000206	CYP6B4 Q27902	Physiology Physiology	Lys484Ser and probably other a.a. substitutions	Nymphalidae brushfoots - (family)	Papilio glaucus eastern tiger swallowtail - (species)	CYP6B4	Papilio glaucus eastern tiger swallowtail - (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
CYP9M10	Xenobiotic resistance (insecticide; pyrethroid)	2 Mutations:	Culex quinquefasciatus southern house mosquito - (species) D	Intraspecific	Candidate Gene	Itokawa K; Komagata O; Kasai S ; et al. (2010) Genomic structures of Cyp9m10 in pyrethroid resistant and susceptible strains of Culex quinquefascia[...] 1 Additional References Itokawa K; Komagata O; Kasai S (2013) Global spread and genetic variants of the two CYP9M10 haplotype forms associated with insecticide re[...]	GP00002116	CYP9M10 D3KSB8	Physiology	2 mutations	Culex quinquefasciatus southern house mosquito - (species)	Culex quinquefasciatus southern house mosquito - (species) D	CYP9M10	Culex quinquefasciatus southern house mosquito - (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 b	Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting)	2 Mutations: Coding SNP	Mycena galopus (species) D	Interspecific	Candidate Gene	Kraiczy P; Haase U; Gencic S ; et al. (1996) The molecular basis for the natural resistance of the cytochrome bc1 complex from strobilurin-produc[...]	GP00002044	UQCRFS1 P47985	Physiology	2 mutations	Mycena viridimarginata (species)	Mycena galopus (species) D	cytochrome b	Mycena galopus (species)	Published - Accepted by Curator
cytochrome b	Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting)	2 Mutations: Coding SNP	Strobilurus tenacellus (species) D	Interspecific	Candidate Gene	Kraiczy P; Haase U; Gencic S ; et al. (1996) The molecular basis for the natural resistance of the cytochrome bc1 complex from strobilurin-produc[...]	GP00002045	UQCRFS1 P47985	Physiology	2 mutations	Mycena viridimarginata (species)	Strobilurus tenacellus (species) D	cytochrome b	Strobilurus tenacellus (species)	Published - Accepted by Curator
cytochrome b	Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting)	Coding, SNP	Schizosaccharomyces pombe fission yeast - (species) D	Interspecific	Candidate Gene	Kraiczy P; Haase U; Gencic S ; et al. (1996) The molecular basis for the natural resistance of the cytochrome bc1 complex from strobilurin-produc[...]	GP00002046	UQCRFS1 P47985	Physiology	N261D	Saccharomyces cerevisiae baker's yeast - (species)	Schizosaccharomyces pombe fission yeast - (species) D	cytochrome b	Schizosaccharomyces pombe fission yeast - (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
DEP1 (DENSE AND ERECT PANICLES 1)	Nitrogen use (metabolism)	Coding, SNP	Oryza sativa Japonica Group Japanese rice - (no rank)	Domesticated	Linkage Mapping	Sun H; Qian Q; Wu K ; et al. (2014) Heterotrimeric G proteins regulate nitrogen-use efficiency in rice.	GP00001376	P0046G12.12-1 Q67UU9	Physiology	p.Cys105Tyr affecting affinity interaction between the GGL domain of DEP1 and RGB1 subunit	Oryza sativa Indica Group long-grained rice - (no rank)	Oryza sativa Japonica Group Japanese rice - (no rank)	DEP1 (DENSE AND ERECT PANICLES 1)	Oryza sativa Japonica Group Japanese rice - (no rank)	Published - Accepted by Curator
diacylglycerol acyltransferase 1 (DGAT1)	Milk fat content	Coding, SNP	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Grisart B; Coppieters W; Farnir F ; et al. (2002) Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the [...] 1 Additional References Grisart B; Farnir F; Karim L (2004) Genetic and functional confirmation of the causality of the DGAT1 K232A quantitative trait nucleotid[...]	GP00000222	Dgat1 Q9Z2A7	Physiology	K232A	Bos taurus cattle - (species)	Bos taurus cattle - (species)	diacylglycerol acyltransferase 1 (DGAT1)	Bos taurus cattle - (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
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 Unckless RL; Howick VM; Lazzaro BP (2016) Convergent Balancing Selection on an Antimicrobial Peptide in Drosophila.	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 Unckless RL; Lazzaro BP (2016) The potential for adaptive maintenance of diversity in insect antimicrobial peptides.	GP00000228	DptA P24492	Physiology	Ser>Arg (AGC>AGG)	Drosophila simulans (species)	Drosophila simulans (species)	Diptericin	Drosophila simulans (species)	Published - Accepted by Curator
DMRT3	Gait (ability to pace)	Coding, SNP N	Equus caballus horse - (species)	Domesticated	Linkage Mapping	Andersson LS; Larhammar M; Memic F ; et al. (2012) Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice. 1 Additional References Petersen JL; Mickelson JR; Rendahl AK (2013) Genome-wide analysis reveals selection for important traits in domestic horse breeds.	GP00000230	DMRT3 F6W2R2	Behavior	Premature stop codon (Ser301Stop) resulting in truncated protein: a single base change at nucleotide position chr23:22999655 causing a premature stop at codon 301 in DMRT3 (DMRT3_Ser301STOP). The allele is expected to encode a truncated protein lacking 1 N	Equus caballus horse - (species)	Equus caballus horse - (species)	DMRT3	Equus caballus horse - (species)	Published - Accepted by Curator
DNA replication factor CDT1	Resistance to UV irradiation	Coding, SNP	Rhinopithecus strykeri Burmese snub-nosed monkey - (species) D Rhinopithecus bieti black snub-nosed monkey - (species) D	Interspecific	Association Mapping	Yu L; Wang GD; Ruan J ; et al. (2016) Genomic analysis of snub-nosed monkeys (Rhinopithecus) identifies genes and processes related to hig[...]	GP00001507	CDT1 Q9H211	Physiology	p.Ala537Val	Rhinopithecus avunculus Tonkin snub-nosed monkey - (species)	Rhinopithecus strykeri Burmese snub-nosed monkey - (species) D Rhinopithecus bieti black snub-nosed monkey - (species) D	DNA replication factor CDT1	Rhinopithecus strykeri Burmese snub-nosed monkey - (species) Rhinopithecus bieti black snub-nosed monkey - (species)	Published - Accepted by Curator
DNA replication factor CDT1 [[likely pseudo-replicate of other CDT1 entry by introgression]]	Resistance to UV irradiation	Coding, SNP	Rhinopithecus roxellana golden snub-nosed monkey - (species) D	Interspecific	Association Mapping	Yu L; Wang GD; Ruan J ; et al. (2016) Genomic analysis of snub-nosed monkeys (Rhinopithecus) identifies genes and processes related to hig[...]	GP00001508	CDT1 Q9H211	Physiology	p.Ala537Val	Rhinopithecus brelichi Gray snub-nosed monkey - (species)	Rhinopithecus roxellana golden snub-nosed monkey - (species) D	DNA replication factor CDT1 [[likely pseudo-replicate of other CDT1 entry by introgression]]	Rhinopithecus roxellana golden snub-nosed monkey - (species)	Published - Accepted by Curator
DOG1 (DELAY OF GERMINATION 1)	Seed dormancy	Cis-regulatory, SNP	Arabidopsis thaliana thale cress - (species)	Intraspecific	Association Mapping	Kerdaffrec E; Filiault DL; Korte A ; et al. (2016) Multiple alleles at a single locus control seed dormancy in Swedish Arabidopsis.	GP00001397	DOG1 A0SVK0	Physiology	At least 3 haplotypes defined by 4 SNPs in a putative regulatory region of DOG-1.	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	DOG1 (DELAY OF GERMINATION 1)	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
DTH2	Flowering time	2 Mutations: Coding SNP	Oryza sativa rice - (species) D	Domesticated	Linkage Mapping	Wu W; Zheng XM; Lu G ; et al. (2013) Association of functional nucleotide polymorphisms at DTH2 with the northward expansion of rice cult[...]	GP00000239	DTH2 O82118	Physiology	2 mutations	Oryza sativa rice - (species)	Oryza sativa rice - (species) D	DTH2	Oryza sativa rice - (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
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 FLOWERING 3/ EARLY MATURITY 8	Flowering time	Coding, SNP N	Hordeum vulgare (species)	Domesticated	Linkage Mapping	Faure S; Turner AS; Gruszka D ; et al. (2012) Mutation at the circadian clock gene EARLY MATURITY 8 adapts domesticated barley (Hordeum vulgare) t[...]	GP00000245	ELF3 O82804	Physiology	Premature stop codon; C-to-T point mutation in exon 2 N	Hordeum vulgare (species)	Hordeum vulgare (species)	EARLY FLOWERING 3/ EARLY MATURITY 8	Hordeum vulgare (species)	Published - Accepted by Curator
Early flowering1 (EL1)	Flowering time (heading date)	Coding, SNP	Oryza sativa Japonica Group Japanese rice - (no rank) D	Domesticated	Linkage Mapping	Kwon CT; Yoo SC; Koo BH ; et al. (2014) Natural variation in Early flowering1 contributes to early flowering in japonica rice under long day[...]	GP00001636	HD16 Q852L0	Physiology	G476C p.Gly159Ala in the serine/threonine kinase domain leading to non-functional protein	Oryza sativa rice - (species)	Oryza sativa Japonica Group Japanese rice - (no rank) D	Early flowering1 (EL1)	Oryza sativa Japonica Group Japanese rice - (no rank)	Published - Accepted by Curator
Early flowering1 (EL1)	Flowering time (heading date)	Coding, SNP	Oryza sativa Japonica Group Japanese rice - (no rank) D	Domesticated	Linkage Mapping	Kwon CT; Yoo SC; Koo BH ; et al. (2014) Natural variation in Early flowering1 contributes to early flowering in japonica rice under long day[...]	GP00001637	HD16 Q852L0	Physiology	G991A p.Ala331Thr in the serine/threonine kinase domain leading to non-functional protein	Oryza sativa rice - (species)	Oryza sativa Japonica Group Japanese rice - (no rank) D	Early flowering1 (EL1)	Oryza sativa Japonica Group Japanese rice - (no rank)	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
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 Kamberov YG; Wang S; Tan J (2013) Modeling recent human evolution in mice by expression of a selected EDAR variant. Adhikari K; Reales G; Smith AJ (2015) A genome-wide association study identifies multiple loci for variation in human ear morphology. Park JH; Yamaguchi T; Watanabe C (2012) Effects of an Asian-specific nonsynonymous EDAR variant on multiple dental traits. Kimura R; Yamaguchi T; Takeda M (2009) A common variation in EDAR is a genetic determinant of shovel-shaped incisors.	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
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 Bigham A; Bauchet M; Pinto D (2010) Identifying signatures of natural selection in Tibetan and Andean populations using dense genome sca[...] Xu S; Li S; Yang Y (2011) A genome-wide search for signals of high-altitude adaptation in Tibetans. Xiang K; Ouzhuluobu ; Peng Y (2013) Identification of a Tibetan-specific mutation in the hypoxic gene EGLN1 and its contribution to high[...]	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	Coding, SNP	Panthera uncia snow leopard - (species) D	Interspecific	Association Mapping	Cho YS; Hu L; Hou H ; et al. (2013) The tiger genome and comparative analysis with lion and snow leopard genomes.	GP00001358	EGLN1 Q9GZT9	Physiology	p.Met39Lys	Panthera (genus)	Panthera uncia snow leopard - (species) D	EGLN1	Panthera uncia snow leopard - (species)	Published - Accepted by Curator
EGLN1	Hypoxia response	Coding, SNP	Heterocephalus glaber naked mole-rat - (species) D	Interspecific	Association Mapping	Kim EB; Fang X; Fushan AA ; et al. (2011) Genome sequencing reveals insights into physiology and longevity of the naked mole rat.	GP00001759	EGLN1 Q9GZT9	Physiology	unique amino-acid changes in different positions of EGLN1 (Pro15, Arg17 and Arg36)	Rodentia rodent - (order)	Heterocephalus glaber naked mole-rat - (species) D	EGLN1	Heterocephalus glaber naked mole-rat - (species)	Published - Accepted by Curator
Ehd1 (Response regulator)	Flowering time	Coding, SNP	Oryza sativa rice - (species)	Domesticated	Linkage Mapping	Doi K; Izawa T; Fuse T ; et al. (2004) Ehd1, a B-type response regulator in rice, confers short-day promotion of flowering and controls FT-[...]	GP00000263	EHD1 Q9H4M9	Physiology	G218R in highly conserved region in GARP domain	Oryza glaberrima African rice - (species)	Oryza sativa rice - (species)	Ehd1 (Response regulator)	Oryza sativa rice - (species)	Published - Accepted by Curator
enamelysin (MMP20)	Tooth composition (no enamel production)	Coding, SNP N	Kogia breviceps pygmy sperm whale - (species) D	Intergeneric or Higher	Candidate Gene	Meredith RW; Gatesy J; Cheng J ; et al. (2011) Pseudogenization of the tooth gene enamelysin (MMP20) in the common ancestor of extant baleen whales[...]	GP00001941	MMP20 O60882	Physiology	opal stop codon (TGA) in the propeptide-coding region of MMP20 exon 2 in a single individual of the pygmy sperm whale Kogia breviceps N	Kogia sima dwarf sperm whale - (species)	Kogia breviceps pygmy sperm whale - (species) D	enamelysin (MMP20)	Kogia breviceps pygmy sperm whale - (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 Sinha H; Nicholson BP; Steinmetz LM (2006) Complex genetic interactions in a quantitative trait locus.	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 Sinha H; Nicholson BP; Steinmetz LM (2006) Complex genetic interactions in a quantitative trait locus.	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
Endothelin receptor B	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Metallinos DL; Bowling AT; Rine J (1998) A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome:[...] 2 Additional References Santschi EM; Purdy AK; Valberg SJ (1998) Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses. Yang GC; Croaker D; Zhang AL (1998) A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndr[...]	GP00000269	Ednrb P48302	Morphology	Iso118Lys	Equus caballus horse - (species)	Equus caballus horse - (species) D	Endothelin receptor B	Equus caballus horse - (species)	Published - Accepted by Curator
Endothelin receptor B	Coloration (feathers)	Coding, SNP	Coturnix japonica Japanese quail - (species)	Domesticated	Linkage Mapping	Miwa M; Inoue-Murayama M; Aoki H ; et al. (2007) Endothelin receptor B2 (EDNRB2) is associated with the panda plumage colour mutation in Japanese qua[...]	GP00000270	Ednrb P48302	Morphology	Arg332His	Coturnix japonica Japanese quail - (species)	Coturnix japonica Japanese quail - (species)	Endothelin receptor B	Coturnix japonica Japanese quail - (species)	Published - Accepted by Curator
Endothelin receptor B2	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species) D	Domesticated	Linkage Mapping	Kinoshita K; Akiyama T; Mizutani M ; et al. (2014) Endothelin receptor B2 (EDNRB2) is responsible for the tyrosinase-independent recessive white (mo(w)[...]	GP00001360	EDNRB2 W8VUK4	Morphology	c.1008G>T p.Cys244Phe	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	Endothelin receptor B2	Gallus gallus chicken - (species)	Published - Accepted by Curator
Endothelin receptor B2	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species) D	Domesticated	Linkage Mapping	Kinoshita K; Akiyama T; Mizutani M ; et al. (2014) Endothelin receptor B2 (EDNRB2) is responsible for the tyrosinase-independent recessive white (mo(w)[...]	GP00001361	EDNRB2 W8VUK4	Morphology	c.G1272A p.Arg332His	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	Endothelin receptor B2	Gallus gallus chicken - (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
eosinophil-derived neurotoxin (EDN)	Increase in antiviral ribonuclease activity	Coding, SNP	Catarrhini (parvorder)	Intergeneric or Higher	Candidate Gene	Zhang J; Rosenberg HF (2002) Complementary advantageous substitutions in the evolution of an antiviral RNase of higher primates.	GP00000272	RNASE2 P10153	Physiology	Arg64Ser	Primates (order)	Catarrhini (parvorder)	eosinophil-derived neurotoxin (EDN)	Catarrhini (parvorder)	Published - Accepted by Curator
eosinophil-derived neurotoxin (EDN)	Increase in antiviral ribonuclease activity	Coding, SNP	Catarrhini (parvorder)	Intergeneric or Higher	Candidate Gene	Zhang J; Rosenberg HF (2002) Complementary advantageous substitutions in the evolution of an antiviral RNase of higher primates.	GP00000273	RNASE2 P10153	Physiology	Thr132Arg	Primates (order)	Catarrhini (parvorder)	eosinophil-derived neurotoxin (EDN)	Catarrhini (parvorder)	Published - Accepted by Curator
EPAS1	Hypoxia response	Coding, SNP	Panthera uncia snow leopard - (species) D	Interspecific	Association Mapping	Cho YS; Hu L; Hou H ; et al. (2013) The tiger genome and comparative analysis with lion and snow leopard genomes.	GP00001357	EPAS1 Q99814	Physiology	two species-specific amino acid changes: Val663Ile and Cys794Arg - whether both or only one is affecting the phenotype is unknown	Panthera (genus)	Panthera uncia snow leopard - (species) D	EPAS1	Panthera uncia snow leopard - (species)	Published - Accepted by Curator
EPAS1	Hypoxia response	Coding, SNP	Peromyscus maniculatus North American deer mouse - (species) D	Intraspecific	Association Mapping	Schweizer RM; Velotta JP; Ivy CM ; et al. (2019) Physiological and genomic evidence that selection on the transcription factor Epas1 has altered card[...]	GP00002062	EPAS1 Q99814	Physiology	non-synonymous polymorphism located at site 755 in the 14th exon that changes threonine to methionine Thr755Met	Peromyscus maniculatus North American deer mouse - (species)	Peromyscus maniculatus North American deer mouse - (species) D	EPAS1	Peromyscus maniculatus North American deer mouse - (species)	Published - Accepted by Curator
EphB2	Feathers (crest morphology)	Coding, SNP	Columba livia rock pigeon - (species) D	Domesticated	Association Mapping	Shapiro MD; Kronenberg Z; Li C ; et al. (2013) Genomic diversity and evolution of the head crest in the rock pigeon. 1 Additional References Vickrey AI; Domyan ET; Horvath MP (2015) Convergent Evolution of Head Crests in Two Domesticated Columbids Is Associated with Different Misse[...]	GP00000275	EPHB2 P28693	Morphology	Arg758Cys (C>T)	Columba livia rock pigeon - (species)	Columba livia rock pigeon - (species) D	EphB2	Columba livia rock pigeon - (species)	Published - Accepted by Curator
EphB2	Feathers (crest morphology)	Coding, SNP	Streptopelia risoria ringneck dove - (species) D	Domesticated	Candidate Gene	Vickrey AI; Domyan ET; Horvath MP ; et al. (2015) Convergent Evolution of Head Crests in Two Domesticated Columbids Is Associated with Different Misse[...]	GP00000276	EPHB2 P28693	Morphology	Gly636Arg (G>A)	Streptopelia risoria ringneck dove - (species)	Streptopelia risoria ringneck dove - (species) D	EphB2	Streptopelia risoria ringneck dove - (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
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
ERG3	Xenobiotic resistance (drug)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Lo DS; Otto SP (2012) Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]	GP00000286	ERG3 P32353	Physiology	Arg63Stop A187T in line 21 N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	ERG3	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
ERG3	Xenobiotic resistance (drug)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Lo DS; Otto SP (2012) Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]	GP00001744	ERG3 P32353	Physiology	Ser76Stop C227A in line 22 N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	ERG3	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
ERG3	Xenobiotic resistance (drug)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Lo DS; Otto SP (2012) Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]	GP00001745	ERG3 P32353	Physiology	Ser95Stop C284A in line 23 N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	ERG3	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
ERG3	Xenobiotic resistance (drug)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Lo DS; Otto SP (2012) Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]	GP00001746	ERG3 P32353	Physiology	Trp205Stop G615A in line 24 N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	ERG3	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
ERG3	Xenobiotic resistance (drug)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Lo DS; Otto SP (2012) Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]	GP00001747	ERG3 P32353	Physiology	Trp205Stop G615A in line 25 N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	ERG3	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
ERG3	Xenobiotic resistance (drug)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Lo DS; Otto SP (2012) Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]	GP00001748	ERG3 P32353	Physiology	Trp205Stop G615A in line 26 N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	ERG3	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
ERG3	Xenobiotic resistance (drug)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Lo DS; Otto SP (2012) Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]	GP00001749	ERG3 P32353	Physiology	Trp205Stop G615A in line 27 N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	ERG3	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
ERG3	Xenobiotic resistance (drug)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Lo DS; Otto SP (2012) Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]	GP00001751	ERG3 P32353	Physiology	Trp219Stop G656A in line 29 N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	ERG3	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
ERG3	Xenobiotic resistance (drug)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Lo DS; Otto SP (2012) Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]	GP00001752	ERG3 P32353	Physiology	Gly235Ser G703A in line 30 N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	ERG3	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
ERG3	Xenobiotic resistance (drug)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Lo DS; Otto SP (2012) Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]	GP00001753	ERG3 P32353	Physiology	Tyr299Stop C897A in line 31 N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	ERG3	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
ERG3	Xenobiotic resistance (drug)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Lo DS; Otto SP (2012) Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]	GP00001754	ERG3 P32353	Physiology	Gly300Arg G898C in line 32 N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	ERG3	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
ERG3	Xenobiotic resistance (drug)	Coding, SNP N	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Lo DS; Otto SP (2012) Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]	GP00001755	ERG3 P32353	Physiology	Asp307Ala A920C in line 33 N	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	ERG3	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
ERG7	Xenobiotic resistance (drug)	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Lo DS; Otto SP (2012) Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]	GP00000289	ERG7 P38604	Physiology	Phe699Leu	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	ERG7	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
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
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
FAD2A	Oil composition (oleate levels)	Coding, SNP N	Arachis hypogaea peanut - (species) D	Domesticated	Candidate Gene	Jung S; Powell G; Moore K ; et al. (2000) The high oleate trait in the cultivated peanut [Arachis hypogaea L]. II. Molecular basis and genetic[...]	GP00002075	FAD2A E2GJC1	Physiology	D150N in a residue that is absolutely conserved among other desaturases N	Arachis hypogaea peanut - (species)	Arachis hypogaea peanut - (species) D	FAD2A	Arachis hypogaea peanut - (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
FGF5	Hair length (short)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Cadieu E; Neff MW; Quignon P ; et al. (2009) Coat variation in the domestic dog is governed by variants in three genes.	GP00000310	Fgf5 P15656	Morphology	Cys95Phe	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	FGF5	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
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
Fgfr1a1	Scales (loss)	Coding, SNP	Cyprinus carpio common carp - (species) D	Domesticated	Candidate Gene	Rohner N; Bercsényi M; Orbán L ; et al. (2009) Duplication of fgfr1 permits Fgf signaling to serve as a target for selection during domestication.	GP00000313	fgfr1a Q90Z00	Morphology	Glu664Lys	Cyprinus carpio common carp - (species)	Cyprinus carpio common carp - (species) D	Fgfr1a1	Cyprinus carpio common carp - (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'-hydroxylase (F3'H)	Coloration (flowers)	Coding, SNP N	Ipomoea nil Japanese morning glory - (species) D	Domesticated	Candidate Gene	Hoshino A; Morita Y; Choi JD ; et al. (2003) Spontaneous mutations of the flavonoid 3'-hydroxylase gene conferring reddish flowers in the three m[...]	GP00002087	CYP75B1 Q9SD85	Morphology	nonsense mutation caused by a single C to T base transition generating the stop codon TGA. N	Ipomoea nil Japanese morning glory - (species)	Ipomoea nil Japanese morning glory - (species) D	flavonoid 3'-hydroxylase (F3'H)	Ipomoea nil Japanese morning glory - (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)	Coding, SNP	Pisum sativum pea - (species)	Domesticated	Candidate Gene	Moreau C; Ambrose MJ; Turner L ; et al. (2012) The B gene of pea encodes a defective flavonoid 3',5'-hydroxylase, and confers pink flower color.	GP00000326	CYP75A2 P37120	Morphology	G111E	Pisum sativum pea - (species)	Pisum sativum pea - (species)	flavonoid 3';5'-hydroxylase (F3'5'H)	Pisum sativum pea - (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 Ågren J; Oakley CG; Lundemo S (2017) Adaptive divergence in flowering time among natural populations of Arabidopsis thaliana: Estimates o[...]	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 Ågren J; Oakley CG; Lundemo S (2017) Adaptive divergence in flowering time among natural populations of Arabidopsis thaliana: Estimates o[...]	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	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 Ågren J; Oakley CG; Lundemo S (2017) Adaptive divergence in flowering time among natural populations of Arabidopsis thaliana: Estimates o[...]	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	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
FLC-1	Flowering time	Coding, SNP	Brassica rapa field mustard - (species)	Domesticated	Linkage Mapping	Yuan YX; Wu J; Sun RF ; et al. (2009) A naturally occurring splicing site mutation in the Brassica rapa FLC1 gene is associated with varia[...]	GP00000338	FLC Q9S7Q7	Physiology	GA substitution disrupting Splice Site	Brassica rapa field mustard - (species)	Brassica rapa field mustard - (species)	FLC-1	Brassica rapa field mustard - (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 Mery F; Belay AT; So AK (2007) Natural polymorphism affecting learning and memory in Drosophila. Anreiter I; Kramer JM; Sokolowski MB (2017) Epigenetic mechanisms modulate differences in Drosophila foraging behavior.	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
FoxP2	Gene expression change (transcriptional targets)	Coding, SNP	Homo sapiens human - (species) D	Interspecific	Candidate Gene	Konopka G; Bomar JM; Winden K ; et al. (2009) Human-specific transcriptional regulation of CNS development genes by FOXP2. 1 Additional References Schreiweis C; Bornschein U; Burguière E (2014) Humanized Foxp2 accelerates learning by enhancing transitions from declarative to procedural perform[...]	GP00000353	FOXP2 O15409	Behavior	2 aa changes (T303N and N325S) resulting in changes of the regulated transcriptional targets in a human neuron cell line. Speculatively; these changes could be associated with language skills but these connections with null-mutant phenotypes are dubious - whether one or both mutations are required is unknown	Pan troglodytes chimpanzee - (species)	Homo sapiens human - (species) D	FoxP2	Homo sapiens human - (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, 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, 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 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 Dina C; Meyre D; Gallina S (2007) Variation in FTO contributes to childhood obesity and severe adult obesity. Scuteri A; Sanna S; Chen WM (2007) Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-rela[...] Yang J; Loos RJ; Powell JE (2012) FTO genotype is associated with phenotypic variability of body mass index. Claussnitzer M; Dankel SN; Kim KH (2015) FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.	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
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 Ferrer-Admetlla A; Sikora M; Laayouni H (2009) A natural history of FUT2 polymorphism in humans.	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 Ferrer-Admetlla A; Sikora M; Laayouni H (2009) A natural history of FUT2 polymorphism in humans.	GP00000382	FUT2 Q10981	Physiology	Ile129Phe	Homo sapiens human - (species)	Homo sapiens human - (species)	FUT2	Homo sapiens human - (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
GCNF (NR6A1)	Vertebrae number	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Linkage Mapping	Mikawa S; Morozumi T; Shimanuki S ; et al. (2007) Fine mapping of a swine quantitative trait locus for number of vertebrae and analysis of an orphan n[...]	GP00000386	Nr6a1 Q64249	Morphology	Pro192Leu	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	GCNF (NR6A1)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
GDF9	Fertility (increased ovulation rate)	Coding, SNP	Ovis aries sheep - (species)	Domesticated	Candidate Gene	Silva BD; Castro EA; Souza CJ ; et al. (2011) A new polymorphism in the Growth and Differentiation Factor 9 (GDF9) gene is associated with increas[...]	GP00000390	GDF9 O60383	Physiology	F345C	Ovis aries sheep - (species)	Ovis aries sheep - (species)	GDF9	Ovis aries sheep - (species)	Published - Accepted by Curator
GDF9	Fertility (increased ovulation rate)	Coding, SNP	Ovis aries sheep - (species)	Domesticated	Linkage Mapping	Nicol L; Bishop SC; Pong-Wong R ; et al. (2009) Homozygosity for a single base-pair mutation in the oocyte-specific GDF9 gene results in sterility i[...]	GP00000391	GDF9 O60383	Physiology	S109R	Ovis aries sheep - (species)	Ovis aries sheep - (species)	GDF9	Ovis aries sheep - (species)	Published - Accepted by Curator
GH	Body size (dwarfism)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	McCormack BL; Chase CC; Olson TA ; et al. (2009) A miniature condition in Brahman cattle is associated with a single nucleotide mutation within the g[...]	GP00002037	GH1 P01241	Morphology	g.48768780C>T c.593C>T p.T198M	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	GH	Bos taurus cattle - (species)	Published - Accepted by Curator
GIGANTEA	Photoperiod response Circadian rhythm	Coding, SNP	Brassica rapa field mustard - (species)	Domesticated	Linkage Mapping	Xie Q; Lou P; Hermand V ; et al. (2015) Allelic polymorphism of GIGANTEA is responsible for naturally occurring variation in circadian perio[...]	GP00000396	GI Q9SQI2	Physiology Physiology	Ser264Ala	Brassica rapa field mustard - (species)	Brassica rapa field mustard - (species)	GIGANTEA	Brassica rapa field mustard - (species)	Published - Accepted by Curator
GL3.1	Grain size	2 Mutations: Coding SNP	Oryza sativa rice - (species)	Domesticated	Linkage Mapping	Qi P; Lin YS; Song XJ ; et al. (2012) The novel quantitative trait locus GL3.1 controls rice grain size and yield by regulating Cyclin-T1;[...]	GP00000397	GL3 Q9FN69	Morphology	2 mutations	Oryza sativa rice - (species)	Oryza sativa rice - (species)	GL3.1	Oryza sativa rice - (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 Hauser MT; Harr B; Schlötterer C (2001) Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]	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
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
GmHs1-1 (Glyma02g43700.1)	Seed hardness Seed coat permeability	Coding, SNP	Glycine max soybean - (species) D	Domesticated	Linkage Mapping	Sun L; Miao Z; Cai C ; et al. (2015) GmHs1-1, encoding a calcineurin-like protein, controls hard-seededness in soybean.	GP00001543	Hs1 I1JIK2	Physiology Physiology	C>T p.Thr>Met predicted to affect the alpha-helix of the protein	Glycine soja (species)	Glycine max soybean - (species) D	GmHs1-1 (Glyma02g43700.1)	Glycine max soybean - (species)	Published - Accepted by Curator
GPA1	Pheromone response Cell elongation	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species)	Domesticated	Linkage Mapping	Yvert G; Brem RB; Whittle J ; et al. (2003) Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors. 1 Additional References Nogami S; Ohya Y; Yvert G (2007) Genetic complexity and quantitative trait loci mapping of yeast morphological traits.	GP00000410	GPA1 P08539	Physiology Physiology	Ser469Ile	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species)	GPA1	Saccharomyces cerevisiae baker's yeast - (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 Tanimura Teiichi; Isono Kunio; Takamura Tsuguhiko (1982 ) Genetic dimorphism in the taste sensitivity to trehalose inDrosophila melanogaster Inomata N; Goto H; Itoh M (2004) A single-amino-acid change of the gustatory receptor gene, Gr5a, has a major effect on trehalose sen[...]	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
Green-sensitive opsin (RH2)	Color vision (blue shift)	Coding, SNP	Thunnus orientalis Pacific bluefin tuna - (species) D	Intergeneric or Higher	Candidate Gene	Nakamura Y; Mori K; Saitoh K ; et al. (2013) Evolutionary changes of multiple visual pigment genes in the complete genome of Pacific bluefin tuna[...]	GP00001469	opn1mw1 Q9W6A5	Physiology	p.E122Q (G>C) in four of five genes	Percomorphaceae (no rank)	Thunnus orientalis Pacific bluefin tuna - (species) D	Green-sensitive opsin (RH2)	Thunnus orientalis Pacific bluefin tuna - (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
Growth Hormone Receptor	Milk yield	Coding, SNP	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Viitala S; Szyda J; Blott S ; et al. (2006) The role of the bovine growth hormone receptor and prolactin receptor genes in milk, fat and protein[...] 1 Additional References Rahmatalla SA; Müller U; Strucken EM (2011) The F279Y polymorphism of the GHR gene and its relation to milk production and somatic cell score in[...]	GP00000416	Ghr P16882	Physiology	Phe279Tyr	Bos taurus cattle - (species)	Bos taurus cattle - (species)	Growth Hormone Receptor	Bos taurus cattle - (species)	Published - Accepted by Curator
growth hormone receptor (GHR)	Body size (weight)	Coding, SNP	Homo sapiens human - (species) D	Domesticated	Association Mapping	Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013) Derived variants at six genes explain nearly half of size reduction in dog breeds.	GP00001475	GHR Q9TU69	Morphology	G>A in exon 5 p.E191K in extracellular domain	Canis lupus gray wolf - (species)	Homo sapiens human - (species) D	growth hormone receptor (GHR)	Homo sapiens human - (species)	Published - Accepted by Curator
growth hormone receptor (GHR)	Body size (weight)	Coding, SNP	Homo sapiens human - (species) D	Domesticated	Association Mapping	Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013) Derived variants at six genes explain nearly half of size reduction in dog breeds.	GP00001476	GHR Q9TU69	Morphology	C>T in exon 5 p.P177L in extracellular domain	Canis lupus gray wolf - (species)	Homo sapiens human - (species) D	growth hormone receptor (GHR)	Homo sapiens human - (species)	Published - Accepted by Curator
GS3	Grain size	Coding, SNP N	Oryza sativa rice - (species)	Domesticated	Linkage Mapping	Fan C; Xing Y; Mao H ; et al. (2006) GS3, a major QTL for grain length and weight and minor QTL for grain width and thickness in rice, en[...] 1 Additional References Huang X; Wei X; Sang T (2010) Genome-wide association studies of 14 agronomic traits in rice landraces.	GP00000417	GS3 C6L686	Morphology	C55*;TGC>TGA causing a 178-aa truncation in the C-terminus of the predicted protein N	Oryza sativa rice - (species)	Oryza sativa rice - (species)	GS3	Oryza sativa rice - (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 Yang Y; Chen H; Wu S (2006) Identification and molecular detection of a deletion mutation responsible for a truncated cadherin o[...]	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
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
Hd1	Flowering time	Coding, SNP N	Oryza sativa rice - (species) D	Domesticated	Candidate Gene	Takahashi Y; Teshima KM; Yokoi S ; et al. (2009) Variations in Hd1 proteins, Hd3a promoters, and Ehd1 expression levels contribute to diversity of fl[...]	GP00001725	HD1 Q9FDX8	Physiology	C to T – stop codon N	Oryza sativa rice - (species)	Oryza sativa rice - (species) D	Hd1	Oryza sativa rice - (species)	Published - Accepted by Curator
Hd6a	Flowering time	Coding, SNP N	Oryza sativa rice - (species)	Domesticated	Linkage Mapping	Takahashi Y; Shomura A; Sasaki T ; et al. (2001) Hd6, a rice quantitative trait locus involved in photoperiod sensitivity, encodes the alpha subunit [...]	GP00000442	HD6 Q9AR27	Physiology	K91*; AAG>TAG N	Oryza sativa rice - (species)	Oryza sativa rice - (species)	Hd6a	Oryza sativa rice - (species)	Published - Accepted by Curator
Heading Date 1 (HD1)	Flowering time	Coding, SNP N	Setaria italica foxtail millet - (species) D	Domesticated	Association Mapping	Liu H; Liu H; Zhou L ; et al. (2015) Parallel Domestication of the Heading Date 1 Gene in Cereals.	GP00001410	CO Q39057	Physiology	splicing variant at position 787 GT>AT resulting in a splicing shift to position 754 introducing a deletion of 33 bp in the transcript and 11 aa in the protein N	Setaria italica foxtail millet - (species)	Setaria italica foxtail millet - (species) D	Heading Date 1 (HD1)	Setaria italica foxtail millet - (species)	Published - Accepted by Curator
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, SNP	Oryza sativa rice - (species)	Domesticated	Linkage Mapping	Ueno D; Yamaji N; Kono I ; et al. (2010) Gene limiting cadmium accumulation in rice.	GP00000445	HMA3 P0CW78	Physiology	H80R	Oryza sativa rice - (species)	Oryza sativa rice - (species)	heavy metal atpase3 (HMA3)	Oryza sativa rice - (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	Hypoxia response	Coding, SNP	Lama (genus)	Interspecific	Candidate Gene	Kleinschmidt T; März J; Jürgens KD ; et al. (1986) Interaction of allosteric effectors with alpha-globin chains and high altitude respiration of mammal[...]	GP00000454	HBA1 P69905	Physiology	Asp122His	Mammalia mammals - (class)	Lama (genus)	hemoglobin; HBA	Lama (genus)	Published - Accepted by Curator
hemoglobin; HBA and HBB	Hypoxia response	Coding, SNP	Crocodylus niloticus Nile crocodile - (species)	Intergeneric or Higher	Candidate Gene	Komiyama NH; Miyazaki G; Tame J ; et al. (1995) Transplanting a unique allosteric effect from crocodile into human haemoglobin.	GP00000455	HBA1 P69905	Physiology	No more than 12 amino acid substitutions required for providing crocodile-like properties in engineered human Hb - effect of single amino acid changes not tested	Homo sapiens human - (species)	Crocodylus niloticus Nile crocodile - (species)	hemoglobin; HBA and HBB	Crocodylus niloticus Nile crocodile - (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 Storz JF; Kelly JK (2008) Effects of spatially varying selection on nucleotide diversity and linkage disequilibrium: insights [...] Natarajan C; Inoguchi N; Weber RE (2013) Epistasis among adaptive mutations in deer mouse hemoglobin.	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 Natarajan C; Projecto-Garcia J; Moriyama H (2015) Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]	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 Natarajan C; Projecto-Garcia J; Moriyama H (2015) Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]	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	Anas puna (species) D	Interspecific	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 Natarajan C; Projecto-Garcia J; Moriyama H (2015) Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]	GP00000460	HBA1 P69905	Physiology	Ala77Thr	Anas versicolor (species)	Anas puna (species) D	hemoglobin; HBA2	Anas puna (species)	Published - Accepted by Curator
hemoglobin; HBA2	Hypoxia response	Coding, SNP	Anas puna (species) D	Interspecific	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[...]	GP00000461	HBAD P02001	Physiology	Val96Ala	Anas versicolor (species)	Anas puna (species) D	hemoglobin; HBA2	Anas puna (species)	Published - Accepted by Curator
hemoglobin; HBA2	Hypoxia response	Coding, SNP	Anser indicus bar-headed goose - (species) D	Interspecific	Candidate Gene	Jessen TH; Weber RE; Fermi G ; et al. (1991) Adaptation of bird hemoglobins to high altitudes: demonstration of molecular mechanism by protein en[...] 2 Additional References McCracken KG; Barger CP; Bulgarella M (2009) Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl. McCracken KG; Barger CP; Sorenson MD (2010) Phylogenetic and structural analysis of the HbA (alphaA/betaA) and HbD (alphaD/betaA) hemoglobin gen[...]	GP00000462	HBA1 P69905	Physiology	Pro119Ala	Anser anser domestic goose - (species)	Anser indicus bar-headed goose - (species) D	hemoglobin; HBA2	Anser indicus bar-headed goose - (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 Natarajan C; Projecto-Garcia J; Moriyama H (2015) Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]	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; HBA2	Hypoxia response	2 Mutations: Coding SNP	Chloephaga melanoptera Andean goose - (species) D	Interspecific	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[...]	GP00000465	HBAD P02001	Physiology	2 mutations	Neochen jubata Orinoco goose - (species)	Chloephaga melanoptera Andean goose - (species) D	hemoglobin; HBA2	Chloephaga melanoptera Andean goose - (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 Natarajan C; Projecto-Garcia J; Moriyama H (2015) Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]	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 Natarajan C; Projecto-Garcia J; Moriyama H (2015) Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]	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	2 Mutations: Coding SNP	Anas puna (species) D	Interspecific	Candidate Gene	McCracken KG; Barger CP; Bulgarella M ; et al. (2009) Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.	GP00000469	HBB P68871	Physiology	2 mutations	Anas ducks - (genus)	Anas puna (species) D	hemoglobin; HBB	Anas puna (species)	Published - Accepted by Curator
hemoglobin; HBB	Hypoxia response	2 Mutations: Coding SNP	Lophonetta specularioides crested duck - (species) D	Interspecific	Candidate Gene	McCracken KG; Barger CP; Bulgarella M ; et al. (2009) Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.	GP00000470	HBB P68871	Physiology	2 mutations	Anatidae waterfowl - (family)	Lophonetta specularioides crested duck - (species) D	hemoglobin; HBB	Lophonetta specularioides crested duck - (species)	Published - Accepted by Curator
hemoglobin; HBB	Hypoxia response	Coding, SNP	Anas puna (species) D	Interspecific	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[...]	GP00000471	HBB P68871	Physiology	Asp94Glu	Anas versicolor (species)	Anas puna (species) D	hemoglobin; HBB	Anas puna (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	Hypoxia response	Coding, SNP	Chloephaga melanoptera Andean goose - (species) D	Interspecific	Candidate Gene	Jessen TH; Weber RE; Fermi G ; et al. (1991) Adaptation of bird hemoglobins to high altitudes: demonstration of molecular mechanism by protein en[...] 2 Additional References McCracken KG; Barger CP; Bulgarella M (2009) Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl. McCracken KG; Barger CP; Sorenson MD (2010) Phylogenetic and structural analysis of the HbA (alphaA/betaA) and HbD (alphaD/betaA) hemoglobin gen[...]	GP00000473	HBB P68871	Physiology	Leu55Ser	Neochen jubata Orinoco goose - (species)	Chloephaga melanoptera Andean goose - (species) D	hemoglobin; HBB	Chloephaga melanoptera Andean goose - (species)	Published - Accepted by Curator
hemoglobin; HBB	Hypoxia response	Coding, SNP	Chloephaga melanoptera Andean goose - (species) D	Interspecific	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[...]	GP00000474	HBB P68871	Physiology	Ala86Ser	Neochen jubata Orinoco goose - (species)	Chloephaga melanoptera Andean goose - (species) D	hemoglobin; HBB	Chloephaga melanoptera Andean goose - (species)	Published - Accepted by Curator
hemoglobin; HBB	Hypoxia response	3 Mutations: Coding SNP	Chloephaga melanoptera Andean goose - (species) D	Interspecific	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[...]	GP00000475	HBA1 P69905	Physiology	3 mutations	Neochen jubata Orinoco goose - (species)	Chloephaga melanoptera Andean goose - (species) D	hemoglobin; HBB	Chloephaga melanoptera Andean goose - (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 Natarajan C; Inoguchi N; Weber RE (2013) Epistasis among adaptive mutations in deer mouse hemoglobin.	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
hemoglobin; HBB/HBD fusion gene	Temperature tolerance (cold)	3 Mutations: Coding SNP	Mammuthus primigenius woolly mammoth - (species)	Intergeneric or Higher	Candidate Gene	Campbell KL; Roberts JE; Watson LN ; et al. (2010) Substitutions in woolly mammoth hemoglobin confer biochemical properties adaptive for cold tolerance[...]	GP00000477	HBB P68871	Physiology	3 mutations	Elephantidae elephants - (family)	Mammuthus primigenius woolly mammoth - (species)	hemoglobin; HBB/HBD fusion gene	Mammuthus primigenius woolly mammoth - (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
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
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
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
Insulin-like growth factor 2 (IGF2)	Muscular mass Fat deposition Heart size	Cis-regulatory, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Linkage Mapping	Van Laere AS; Nguyen M; Braunschweig M ; et al. (2003) A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig.	GP00000502	Igf2 P09535	Morphology Physiology Morphology	1bp change	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	Insulin-like growth factor 2 (IGF2)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Insulin-like growth factor receptor 1 (IGF1R)	Body size (weight)	Coding, SNP	Homo sapiens human - (species) D	Domesticated	Candidate Gene	Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013) Derived variants at six genes explain nearly half of size reduction in dog breeds.	GP00001479	IGF1R P08069	Morphology	G>A p.R204H in exon 2	Canis lupus gray wolf - (species)	Homo sapiens human - (species) D	Insulin-like growth factor receptor 1 (IGF1R)	Homo sapiens human - (species)	Published - Accepted by Curator
interleukin-4	Immune response	Cis-regulatory, SNP	Homo sapiens human - (species)	Interspecific	Candidate Gene	Rockman MV; Hahn MW; Soranzo N ; et al. (2003) Positive selection on a human-specific transcription factor binding site regulating IL4 expression.	GP00000504	IL4R P24394	Physiology	1bp substitution in promoter	Primates (order)	Homo sapiens human - (species)	interleukin-4	Homo sapiens human - (species)	Published - Accepted by Curator
Ir75a	Olfaction	Coding, SNP	Drosophila sechellia (species) D	Interspecific	Candidate Gene	Prieto-Godino LL; Rytz R; Bargeton B ; et al. (2016) Olfactory receptor pseudo-pseudogenes.	GP00001701	Ir75a Q9VVL1	Physiology	T289S and/or Q536K and/or F538L - introduction of these three amino acid changes in the D. melanogaster protein is sufficient to confer response indistinguishable from the one of D. sechellia	Drosophila melanogaster fruit fly - (species)	Drosophila sechellia (species) D	Ir75a	Drosophila sechellia (species)	Published - Accepted by Curator
Ir75b	Olfaction	Coding, SNP	Drosophila sechellia (species) D	Interspecific	Candidate Gene	Prieto-Godino LL; Rytz R; Cruchet S ; et al. (2017) Evolution of Acid-Sensing Olfactory Circuits in Drosophilids.	GP00001702	Ir75b B7Z069	Physiology	T523S in the LBD domain - caused by C1568G	Drosophila melanogaster fruit fly - (species)	Drosophila sechellia (species) D	Ir75b	Drosophila sechellia (species)	Published - Accepted by Curator
IRA1	Low-glucose adaptation (experimental evolution)	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Kao KC; Sherlock G (2008) Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...] 1 Additional References Kvitek DJ; Sherlock G (2011) Reciprocal sign epistasis between frequently experimentally evolved adaptive mutations causes a rugg[...]	GP00001709	IRA1 P18963	Physiology	Arg1583Lys (G>A at position 521875 according to Table 1) - AGR to AAR position 521875	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	IRA1	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
IRF4	Coloration (skin)	Cis-regulatory, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Praetorius C; Grill C; Stacey SN ; et al. (2013) A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway[...] 1 Additional References Visser M; Palstra RJ; Kayser M (2015) Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping o[...]	GP00001364	IRF4 Q15306	Morphology	a C>T substitution in intron4 located within an enhancer	Homo sapiens human - (species)	Homo sapiens human - (species) D	IRF4	Homo sapiens human - (species)	Published - Accepted by Curator
Isocitrate dehydrogenase (NADP) (IDH)	Temperature tolerance (temperature range)	2 Mutations: Coding SNP	Mytilus trossulus common blue mussel - (species)	Interspecific	Candidate Gene	Lockwood BL; Somero GN (2012) Functional determinants of temperature adaptation in enzymes of cold- versus warm-adapted mussels (G[...]	GP00000506	I1VYX2	Physiology	2 mutations	Mytilus galloprovincialis Mediterranean mussel - (species)	Mytilus trossulus common blue mussel - (species)	Isocitrate dehydrogenase (NADP) (IDH)	Mytilus trossulus common blue mussel - (species)	Published - Accepted by Curator
KCS18	Oil composition	Coding, SNP N	Arabidopsis thaliana thale cress - (species)	Intraspecific	Linkage Mapping	Jasinski S; Lécureuil A; Miquel M ; et al. (2012) Natural variation in seed very long chain fatty acid content is controlled by a new isoform of KCS18[...]	GP00000512	FAE1 Q38860	Physiology	L407V N	Arabidopsis thaliana thale cress - (species)	Arabidopsis thaliana thale cress - (species)	KCS18	Arabidopsis thaliana thale cress - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001510	PF3D7_1343700 Q8IDQ2	Physiology	D353Y affecting the BTB/POZ domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001511	PF3D7_1343700 Q8IDQ2	Physiology	P441L affecting the BTB/POZ domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001512	PF3D7_1343700 Q8IDQ2	Physiology	F446I affecting the encoded propeller and BTB/POZ domains	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001513	PF3D7_1343700 Q8IDQ2	Physiology	G449A affecting the encoded propeller and BTB/POZ domains	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001514	PF3D7_1343700 Q8IDQ2	Physiology	N458Y affecting the encoded propeller and BTB/POZ domains	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001515	PF3D7_1343700 Q8IDQ2	Physiology	A481V affecting the encoded propeller domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001516	PF3D7_1343700 Q8IDQ2	Physiology	p.Tyr493His affecting the encoded propeller domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001517	PF3D7_1343700 Q8IDQ2	Physiology	N525D affecting the encoded propeller domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001518	PF3D7_1343700 Q8IDQ2	Physiology	N537I affecting the encoded propeller domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001519	PF3D7_1343700 Q8IDQ2	Physiology	p.Arg539Thr affecting the encoded propeller domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001520	PF3D7_1343700 Q8IDQ2	Physiology	p.Ile543Thr affecting the encoded propeller domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001521	PF3D7_1343700 Q8IDQ2	Physiology	p.Pro553Leu affecting the encoded propeller domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001522	PF3D7_1343700 Q8IDQ2	Physiology	R561H affecting the encoded propeller domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001523	PF3D7_1343700 Q8IDQ2	Physiology	V568G affecting the encoded propeller domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001524	PF3D7_1343700 Q8IDQ2	Physiology	P574L affecting the encoded propeller domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001525	PF3D7_1343700 Q8IDQ2	Physiology	p.Cys580Tyr affecting the encoded propeller domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001526	PF3D7_1343700 Q8IDQ2	Physiology	D584V affecting the encoded propeller domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001527	PF3D7_1343700 Q8IDQ2	Physiology	F673I affecting the encoded propeller domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001528	PF3D7_1343700 Q8IDQ2	Physiology	A675V affecting the encoded propeller domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Association Mapping	Miotto O; Amato R; Ashley EA ; et al. (2015) Genetic architecture of artemisinin-resistant Plasmodium falciparum.	GP00001529	PF3D7_1343700 Q8IDQ2	Physiology	H719N affecting the encoded propeller domain	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
kelch 13 (K13)	Xenobiotic resistance (artemisinin)	Coding, SNP	Plasmodium falciparum malaria parasite P. falciparum - (species) D	Intraspecific	Candidate Gene	Straimer J; Gnädig NF; Witkowski B ; et al. (2015) Drug resistance. K13-propeller mutations confer artemisinin resistance in Plasmodium falciparum clin[...]	GP00001388	PF13_0238 A0A077LQB4	Physiology	M476I	Plasmodium falciparum malaria parasite P. falciparum - (species)	Plasmodium falciparum malaria parasite P. falciparum - (species) D	kelch 13 (K13)	Plasmodium falciparum malaria parasite P. falciparum - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Linkage Mapping	Brooks SA; Bailey E (2005) Exon skipping in the KIT gene causes a Sabino spotting pattern in horses.	GP00000515	Kit P05532	Morphology	T->A in intron 16; leads to skipping of exon 17	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP N	Equus caballus horse - (species) D	Domesticated	Linkage Mapping	Haase B; Brooks SA; Schlumbaum A ; et al. (2007) Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.	GP00000516	Kit P05532	Morphology	Y717* N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Felis catus domestic cat - (species) D	Domesticated	Association Mapping	Montague MJ; Li G; Gandolfi B ; et al. (2014) Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology[...]	GP00000518	Kit P05532	Morphology	Two nucleotide changes affecting site 3 of codon 345 and site 1 of codon 346 - resulting in Glu345Asp + His346Asn c. 1035_1036delinsCA GAGCAY > GACAAY	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	Kit (type III receptor protein-tyrosine kinase)	Felis catus domestic cat - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	2 Mutations:	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Linkage Mapping	Marklund S; Kijas J; Rodriguez-Martinez H ; et al. (1998) Molecular basis for the dominant white phenotype in the domestic pig. 1 Additional References Rubin CJ; Megens HJ; Martinez Barrio A (2012) Strong signatures of selection in the domestic pig genome.	GP00000520	Kit P05532	Morphology	2 mutations	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	Kit (type III receptor protein-tyrosine kinase)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Vulpes vulpes red fox - (species) D	Domesticated	Linkage Mapping	Johnson JL; Kozysa A; Kharlamova AV ; et al. (2015) Platinum coat color in red fox (Vulpes vulpes) is caused by a mutation in an autosomal copy of KIT.	GP00000521	Kit P05532	Morphology	splice mutation; G to A substitution in the first nucleotide of intron 17; leads to skipping of exon 17.	Vulpes vulpes red fox - (species)	Vulpes vulpes red fox - (species) D	Kit (type III receptor protein-tyrosine kinase)	Vulpes vulpes red fox - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (skin; coat)	Coding, SNP	Equus asinus ass - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Leeb T (2015) Two variants in the KIT gene as candidate causative mutations for a dominant white and a white spott[...]	GP00001340	Kit P05532	Morphology	c.662A>C p.Tyr221Ser	Equus asinus ass - (species)	Equus asinus ass - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus asinus ass - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (skin; coat)	Coding, SNP	Equus asinus ass - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Leeb T (2015) Two variants in the KIT gene as candidate causative mutations for a dominant white and a white spott[...]	GP00001341	Kit P05532	Morphology	c.1978+2T>A in splice donor site	Equus asinus ass - (species)	Equus asinus ass - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus asinus ass - (species)	Published - Accepted by Curator
Kit ligand	Coloration (coat)	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Seitz JJ; Schmutz SM; Thue TD ; et al. (1999) A missense mutation in the bovine MGF gene is associated with the roan phenotype in Belgian Blue and[...]	GP00000101	KITLG P21583	Morphology	Ala193Asp ; missense mutation at position 654 - according to OMIA: c.572C>A p.A191N N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Kit ligand	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit ligand	Coloration (hair)	Cis-regulatory, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Guenther CA; Tasic B; Luo L ; et al. (2014) A molecular basis for classic blond hair color in Europeans.	GP00001349	KITLG P21583	Morphology	A>G SNP(rs12821256) 350kb upstream of transcription start	Homo sapiens human - (species)	Homo sapiens human - (species) D	Kit ligand	Homo sapiens human - (species)	Published - Accepted by Curator
KRT27	Hair type (curly)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Association Mapping	Daetwyler HD; Capitan A; Pausch H ; et al. (2014) Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle.	GP00002026	KRT27 Q0P5J6	Morphology	g.41636961C>G c.276C>G p.Asn92Lys	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	KRT27	Bos taurus cattle - (species)	Published - Accepted by Curator
KRT71	Hair type (curly)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Cadieu E; Neff MW; Quignon P ; et al. (2009) Coat variation in the domestic dog is governed by variants in three genes.	GP00000524	Krt71 Q9R0H5	Morphology	c.451A>T in exon 2 - Arg151Trp	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	KRT71	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
KRT71	Hair type (curly and hairless)	2 Mutations: Coding	Felis catus domestic cat - (species) D	Domesticated	Candidate Gene	Gandolfi B; Outerbridge CA; Beresford LG ; et al. (2010) The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71.	GP00000525	Krt71 Q9R0H5	Morphology	2 mutations	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	KRT71	Felis catus domestic cat - (species)	Published - Accepted by Curator
lactase (LCT)	Lactose tolerance (adult)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Linkage Mapping	Enattah NS; Sahi T; Savilahti E ; et al. (2002) Identification of a variant associated with adult-type hypolactasia. 1 Additional References Tishkoff SA; Reed FA; Ranciaro A (2007) Convergent adaptation of human lactase persistence in Africa and Europe.	GP00000529	LCT P09848	Physiology	C-13910T	Homo sapiens human - (species)	Homo sapiens human - (species)	lactase (LCT)	Homo sapiens human - (species)	Published - Accepted by Curator
lactase (LCT)	Lactose tolerance (adult)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007) Convergent adaptation of human lactase persistence in Africa and Europe.	GP00000530	LCT P09848	Physiology	C-13907G	Homo sapiens human - (species)	Homo sapiens human - (species)	lactase (LCT)	Homo sapiens human - (species)	Published - Accepted by Curator
lactase (LCT)	Lactose tolerance (adult)	Cis-regulatory, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007) Convergent adaptation of human lactase persistence in Africa and Europe.	GP00000531	LCT P09848	Physiology	T-13915G	Homo sapiens human - (species)	Homo sapiens human - (species) D	lactase (LCT)	Homo sapiens human - (species)	Published - Accepted by Curator
lactase (LCT)	Lactose tolerance (adult)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007) Convergent adaptation of human lactase persistence in Africa and Europe. 1 Additional References Breton G; Schlebusch CM; Lombard M (2014) Lactase persistence alleles reveal partial East African ancestry of southern African Khoe pastoralis[...]	GP00000532	LCT P09848	Physiology	G14010C ; In Khoe Pastoralist group lactase persistence (LP)-regulatory region 2 SNPs with greatest frequencies 13910C>T and 14010G>C	Homo sapiens human - (species)	Homo sapiens human - (species)	lactase (LCT)	Homo sapiens human - (species)	Published - Accepted by Curator
lactase (LCT)	Lactose tolerance (adult)	Cis-regulatory, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Jones BL; Raga TO; Liebert A ; et al. (2013) Diversity of lactase persistence alleles in Ethiopia: signature of a soft selective sweep. 1 Additional References Liebert A; Jones BL; Danielsen ET (2016) In Vitro Functional Analyses of Infrequent Nucleotide Variants in the Lactase Enhancer Reveal Differ[...]	GP00001714	LCT P09848	Physiology	T14009G (rs869051967) (ss 820486563)	Homo sapiens human - (species)	Homo sapiens human - (species) D	lactase (LCT)	Homo sapiens human - (species)	Published - Accepted by Curator
lbh (limb bud and heart homolog)	Cranio-facial morphology (mandible)	Coding, SNP	Labeotropheus fuelleborni blue mbuna - (species) D	Interspecific	Linkage Mapping	Powder KE; Cousin H; McLinden GP ; et al. (2014) A nonsynonymous mutation in the transcriptional regulator lbh is associated with cichlid craniofacia[...]	GP00001387	LBH Q53QV2	Morphology	G>A p.R17Q	Maylandia zebra zebra mbuna - (species)	Labeotropheus fuelleborni blue mbuna - (species) D	lbh (limb bud and heart homolog)	Labeotropheus fuelleborni blue mbuna - (species)	Published - Accepted by Curator
LIMONENE-MYRCENE SYNTHASE (LMS)	Fragrance (floral terpenoid volatiles; D -limonene and beta-myrcene)	Coding, SNP N	Erythranthe cardinalis (species) D	Interspecific	Linkage Mapping	Byers KJ; Vela JP; Peng F ; et al. (2014) Floral volatile alleles can contribute to pollinator-mediated reproductive isolation in monkeyflower[...]	GP00001761	LMS W6A2K5	Physiology	G66T transversion mutation in exon 3 of McLMS (KM659024) that results in a nonsense mutation in the McLMS protein (G201X) N	Erythranthe lewisii (species)	Erythranthe cardinalis (species) D	LIMONENE-MYRCENE SYNTHASE (LMS)	Erythranthe cardinalis (species)	Published - Accepted by Curator
LPAR1	Hematopoiesis (blood monocyte count)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001612	LPAR1 Q92633	Physiology	A>G at the associated SNP. 2 variants located in an uncharacterized long noncoding RNA	Homo sapiens human - (species)	Homo sapiens human - (species)	LPAR1	Homo sapiens human - (species)	Published - Accepted by Curator
Lr67	Pathogen resistance (rust ; mildew)	Coding, SNP	Triticum aestivum bread wheat - (species) D	Domesticated	Linkage Mapping	Moore JW; Herrera-Foessel S; Lan C ; et al. (2015) A recently evolved hexose transporter variant confers resistance to multiple pathogens in wheat.	GP00001535	A0A0S1LH45	Physiology	Gly144Arg (exon 2) leads to a protein incapable of glucose import; LR67res exerts a dominant-negative effect through heterodimerization with these functional transporters to reduce glucose uptake.; alterations in hexose transport in infected leaves may explain its ability to reduce the growth of multiple biotrophic pathogen species	Triticum aestivum bread wheat - (species)	Triticum aestivum bread wheat - (species) D	Lr67	Triticum aestivum bread wheat - (species)	Published - Accepted by Curator
luciferase	Bioluminescence spectrum	Coding, SNP	Pyrophorus plagiophthalamus (species)	Intergeneric or Higher	Candidate Gene	Wood KV; Lam YA; Seliger HH ; et al. (1989) Complementary DNA coding click beetle luciferases can elicit bioluminescence of different colors.	GP00000552	P08659	Physiology	several nucleotide substitutions leading to several amino acid changes -exact amino acid changes unknown	Photinus pyralis common eastern firefly - (species)	Pyrophorus plagiophthalamus (species)	luciferase	Pyrophorus plagiophthalamus (species)	Published - Accepted by Curator
luciferase	Bioluminescence spectrum	Coding, SNP	Pyrophorus plagiophthalamus (species)	Intraspecific	Candidate Gene	Stolz U; Velez S; Wood KV ; et al. (2003) Darwinian natural selection for orange bioluminescent color in a Jamaican click beetle. 2 Additional References Wood KV; Lam YA; Seliger HH (1989) Complementary DNA coding click beetle luciferases can elicit bioluminescence of different colors. Wood KV (1990 Apr-Jun) Luc genes: introduction of colour into bioluminescence assays.	GP00000553	P08659	Physiology	T739G and C740G in exon 4; leading to one amino acid change - colour difference between the yellow- and orange-emitting luciferases is due entirely to S247G	Pyrophorus plagiophthalamus (species)	Pyrophorus plagiophthalamus (species)	luciferase	Pyrophorus plagiophthalamus (species)	Published - Accepted by Curator
luciferase	Bioluminescence spectrum	2 Mutations: Coding SNP	Pyrophorus plagiophthalamus (species)	Intraspecific	Candidate Gene	Stolz U; Velez S; Wood KV ; et al. (2003) Darwinian natural selection for orange bioluminescent color in a Jamaican click beetle. 2 Additional References Wood KV; Lam YA; Seliger HH (1989) Complementary DNA coding click beetle luciferases can elicit bioluminescence of different colors. Wood KV (1990 Apr-Jun) Luc genes: introduction of colour into bioluminescence assays.	GP00000554	P08659	Physiology	2 mutations	Pyrophorus plagiophthalamus (species)	Pyrophorus plagiophthalamus (species)	luciferase	Pyrophorus plagiophthalamus (species)	Published - Accepted by Curator
luciferase	Bioluminescence spectrum	Coding, SNP	Pyrophorus plagiophthalamus (species)	Intraspecific	Candidate Gene	Stolz U; Velez S; Wood KV ; et al. (2003) Darwinian natural selection for orange bioluminescent color in a Jamaican click beetle. 2 Additional References Wood KV; Lam YA; Seliger HH (1989) Complementary DNA coding click beetle luciferases can elicit bioluminescence of different colors. Wood KV (1990 Apr-Jun) Luc genes: introduction of colour into bioluminescence assays.	GP00001758	P08659	Physiology	exact causing amino acid change(s) unknown	Pyrophorus plagiophthalamus (species)	Pyrophorus plagiophthalamus (species)	luciferase	Pyrophorus plagiophthalamus (species)	Published - Accepted by Curator
lysozyme	Digestion (anaerobic enzymatic activity)	5 Mutations: Coding SNP	Opisthocomus hoazin (species) D	Intergeneric or Higher	Candidate Gene	Kornegay JR; Schilling JW; Wilson AC (1994) Molecular adaptation of a leaf-eating bird: stomach lysozyme of the hoatzin.	GP00000556	LYZ1 P04421	Physiology	5 mutations	Aves birds - (class)	Opisthocomus hoazin (species) D	lysozyme	Opisthocomus hoazin (species)	Published - Accepted by Curator
lysozyme	Digestion (anaerobic enzymatic activity)	5 Mutations: Coding SNP	Bos taurus cattle - (species)	Intergeneric or Higher	Candidate Gene	Stewart CB; Schilling JW; Wilson AC (1987 Nov 26-Dec 2) Adaptive evolution in the stomach lysozymes of foregut fermenters. 1 Additional References Kornegay JR; Schilling JW; Wilson AC (1994) Molecular adaptation of a leaf-eating bird: stomach lysozyme of the hoatzin.	GP00000557	LYZ1 P04421	Physiology	5 mutations	Mammalia mammals - (class)	Bos taurus cattle - (species)	lysozyme	Bos taurus cattle - (species)	Published - Accepted by Curator
lysozyme	Digestion (anaerobic enzymatic activity)	5 Mutations: Coding SNP	Colobinae (subfamily)	Intergeneric or Higher	Candidate Gene	Stewart CB; Schilling JW; Wilson AC (1987 Nov 26-Dec 2) Adaptive evolution in the stomach lysozymes of foregut fermenters. 3 Additional References Kornegay JR; Schilling JW; Wilson AC (1994) Molecular adaptation of a leaf-eating bird: stomach lysozyme of the hoatzin. Swanson KW; Irwin DM; Wilson AC (1991) Stomach lysozyme gene of the langur monkey: tests for convergence and positive selection. Messier W; Stewart CB (1997) Episodic adaptive evolution of primate lysozymes.	GP00000558	LYZ1 P04421	Physiology	5 mutations	Primates (order)	Colobinae (subfamily)	lysozyme	Colobinae (subfamily)	Published - Accepted by Curator
mab-23	Male genitalia	Coding, SNP N	Caenorhabditis elegans (species) D	Intraspecific	Linkage Mapping	Lints R; Emmons SW (2002) Regulation of sex-specific differentiation and mating behavior in C. elegans by a new member of the [...] 1 Additional References Hodgkin J; Doniach T (1997) Natural variation and copulatory plug formation in Caenorhabditis elegans.	GP00001323	mab-23 G5ECK3	Morphology	TGC>TTC - cysteine of the DM motif transformed into phenylalanine; so is likely to disrupt DNA-binding function N	Caenorhabditis elegans (species)	Caenorhabditis elegans (species) D	mab-23	Caenorhabditis elegans (species)	Published - Accepted by Curator
MAM3	Metal tolerance (copper)	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Ono J; Lo DS ; et al. (2015) Too much of a good thing: the unique and repeated paths toward copper adaptation.	GP00001303	PMA1 P05030	Physiology	C>G (Gly > Arg) @ position 250	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	MAM3	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
MAM3	Metal tolerance (copper)	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Ono J; Lo DS ; et al. (2015) Too much of a good thing: the unique and repeated paths toward copper adaptation.	GP00001304	PMA1 P05030	Physiology	C>T (Val > Ile) @ position 1120	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	MAM3	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
MAM3	Metal tolerance (copper)	Coding, SNP	Saccharomyces cerevisiae baker's yeast - (species) D	Experimental Evolution	Association Mapping	Gerstein AC; Ono J; Lo DS ; et al. (2015) Too much of a good thing: the unique and repeated paths toward copper adaptation.	GP00001305	PMA1 P05030	Physiology	C>T (Ser > Asn) @ position 806	Saccharomyces cerevisiae baker's yeast - (species)	Saccharomyces cerevisiae baker's yeast - (species) D	MAM3	Saccharomyces cerevisiae baker's yeast - (species)	Published - Accepted by Curator
MC1R	Coloration (albinism)	Coding, SNP	Astyanax mexicanus Mexican tetra - (species) D	Intraspecific	Linkage Mapping	Gross JB; Borowsky R; Tabin CJ (2009) A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the [...]	GP00000568	MC1R Q01726	Morphology	Arg164Cys (position 160 in human; so this mutation resembles the human R160W hypomorphic human mutation)	Astyanax mexicanus Mexican tetra - (species)	Astyanax mexicanus Mexican tetra - (species) D	MC1R	Astyanax mexicanus Mexican tetra - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Vulpes lagopus Arctic fox - (species)	Intraspecific	Candidate Gene	Våge DI; Fuglei E; Snipstad K ; et al. (2005) Two cysteine substitutions in the MC1R generate the blue variant of the Arctic fox (Alopex lagopus) [...]	GP00000569	MC1R Q01726	Morphology	G5C	Vulpes lagopus Arctic fox - (species)	Vulpes lagopus Arctic fox - (species)	MC1R	Vulpes lagopus Arctic fox - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Vulpes lagopus Arctic fox - (species)	Intraspecific	Candidate Gene	Våge DI; Fuglei E; Snipstad K ; et al. (2005) Two cysteine substitutions in the MC1R generate the blue variant of the Arctic fox (Alopex lagopus) [...]	GP00000570	MC1R Q01726	Morphology	F280C	Vulpes lagopus Arctic fox - (species)	Vulpes lagopus Arctic fox - (species)	MC1R	Vulpes lagopus Arctic fox - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Klungland H; Våge DI; Gomez-Raya L ; et al. (1995) The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination.	GP00000572	MC1R Q01726	Morphology	L99P ; presumably constitutively active - g.14757910T>C c.296T>C p.L99P	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	MC1R	Bos taurus cattle - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies)	Domesticated	Candidate Gene	Schmutz SM; Berryere TG; Ellinwood NM ; et al. (2003 Jan-Feb) MC1R studies in dogs with melanistic mask or brindle patterns.	GP00000574	MC1R Q01726	Morphology	M264V	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies)	MC1R	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000576	MC1R Q01726	Morphology	R18C	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D	MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000577	MC1R Q01726	Morphology	R109W	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D	MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000578	MC1R Q01726	Morphology	R160W	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D	MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000579	MC1R Q01726	Morphology	Q233H	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D	MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Equus caballus horse - (species)	Intraspecific	Candidate Gene	Marklund L; Moller MJ; Sandberg K ; et al. (1996) A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated wit[...] 1 Additional References Pruvost M; Bellone R; Benecke N (2011) Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art.	GP00000580	MC1R Q01726	Morphology	S83F	Equus caballus horse - (species)	Equus caballus horse - (species)	MC1R	Equus caballus horse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Mus poschiavinus (species)	Interspecific	Candidate Gene	Robbins LS; Nadeau JH; Johnson KR ; et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]	GP00000583	MC1R Q01726	Morphology	S69L	Mus musculus house mouse - (species)	Mus poschiavinus (species)	MC1R	Mus poschiavinus (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Mus musculus house mouse - (species)	Domesticated	Candidate Gene	Robbins LS; Nadeau JH; Johnson KR ; et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]	GP00000584	MC1R Q01726	Morphology	E92K	Mus musculus house mouse - (species)	Mus musculus house mouse - (species)	MC1R	Mus musculus house mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Mus musculus house mouse - (species)	Domesticated	Candidate Gene	Robbins LS; Nadeau JH; Johnson KR ; et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]	GP00000585	MC1R Q01726	Morphology	L98P	Mus musculus house mouse - (species)	Mus musculus house mouse - (species)	MC1R	Mus musculus house mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Mus musculus house mouse - (species)	Intraspecific	Candidate Gene	Wada A; Kunieda T; Nishimura M ; et al. (2005 Mar-Apr) A nucleotide substitution responsible for the tawny coat color mutation carried by the MSKR inbred s[...]	GP00000586	MC1R Q01726	Morphology	W252C	Mus musculus house mouse - (species)	Mus musculus house mouse - (species)	MC1R	Mus musculus house mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Ovis aries sheep - (species)	Domesticated	Candidate Gene	Våge DI; Klungland H; Lu D ; et al. (1999) Molecular and pharmacological characterization of dominant black coat color in sheep. 1 Additional References Hepp D; Gonçalves GL; Moreira GR (2016) Epistatic Interaction of the Melanocortin 1 Receptor and Agouti Signaling Protein Genes Modulates Wo[...]	GP00000591	MC1R Q01726	Morphology	D121N	Ovis aries sheep - (species)	Ovis aries sheep - (species)	MC1R	Ovis aries sheep - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Ovis aries sheep - (species)	Domesticated	Candidate Gene	Våge DI; Klungland H; Lu D ; et al. (1999) Molecular and pharmacological characterization of dominant black coat color in sheep. 1 Additional References Hepp D; Gonçalves GL; Moreira GR (2016) Epistatic Interaction of the Melanocortin 1 Receptor and Agouti Signaling Protein Genes Modulates Wo[...]	GP00000592	MC1R Q01726	Morphology	M73K	Ovis aries sheep - (species)	Ovis aries sheep - (species)	MC1R	Ovis aries sheep - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Peromyscus polionotus oldfield mouse - (species)	Intraspecific	Linkage Mapping	Hoekstra HE; Hirschmann RJ; Bundey RA ; et al. (2006) A single amino acid mutation contributes to adaptive beach mouse color pattern.	GP00000594	MC1R Q01726	Morphology	R65C	Peromyscus polionotus oldfield mouse - (species)	Peromyscus polionotus oldfield mouse - (species)	MC1R	Peromyscus polionotus oldfield mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Rattus rattus black rat - (species)	Interspecific	Candidate Gene	Kambe Y; Tanikawa T; Matsumoto Y ; et al. (2011) Origin of agouti-melanistic polymorphism in Wild Black Rats (Rattus rattus) inferred from Mc1r gene [...]	GP00000595	MC1R Q01726	Morphology	Glu93Lys	Rattus tanezumi Oriental house rat - (species)	Rattus rattus black rat - (species)	MC1R	Rattus rattus black rat - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Ursus americanus American black bear - (species)	Intraspecific	Candidate Gene	Ritland K; Newton C; Marshall HD (2001) Inheritance and population structure of the white-phased "Kermode" black bear.	GP00000597	MC1R Q01726	Morphology	Y298C	Ursus americanus American black bear - (species)	Ursus americanus American black bear - (species)	MC1R	Ursus americanus American black bear - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Vulpes vulpes red fox - (species)	Domesticated	Candidate Gene	Våge DI; Lu D; Klungland H ; et al. (1997) A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes.	GP00000598	MC1R Q01726	Morphology	C125R; constitutively active receptor	Vulpes vulpes red fox - (species)	Vulpes vulpes red fox - (species)	MC1R	Vulpes vulpes red fox - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Anser caerulescens snow goose - (species)	Intraspecific	Candidate Gene	Mundy NI; Badcock NS; Hart T ; et al. (2004) Conserved genetic basis of a quantitative plumage trait involved in mate choice.	GP00000599	MC1R Q01726	Morphology	V85M	Anser caerulescens snow goose - (species)	Anser caerulescens snow goose - (species)	MC1R	Anser caerulescens snow goose - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Coereba flaveola Bananaquit - (species) D	Intraspecific	Candidate Gene	Theron E; Hawkins K; Bermingham E ; et al. (2001) The molecular basis of an avian plumage polymorphism in the wild: a melanocortin-1-receptor point mu[...]	GP00000600	MC1R Q01726	Morphology	E92K	Coereba flaveola Bananaquit - (species)	Coereba flaveola Bananaquit - (species) D	MC1R	Coereba flaveola Bananaquit - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Columba livia rock pigeon - (species)	Domesticated	Candidate Gene	Guernsey MW; Ritscher L; Miller MA ; et al. (2013) A Val85Met mutation in melanocortin-1 receptor is associated with reductions in eumelanic pigmentati[...]	GP00000601	MC1R Q01726	Morphology	Val85Met (G253A)	Columba livia rock pigeon - (species)	Columba livia rock pigeon - (species)	MC1R	Columba livia rock pigeon - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Coturnix japonica Japanese quail - (species)	Domesticated	Linkage Mapping	Nadeau NJ; Minvielle F; Mundy NI (2006) Association of a Glu92Lys substitution in MC1R with extended brown in Japanese quail (Coturnix japon[...]	GP00000602	MC1R Q01726	Morphology	E92K	Coturnix japonica Japanese quail - (species)	Coturnix japonica Japanese quail - (species)	MC1R	Coturnix japonica Japanese quail - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Falco rusticolus gyrfalcon - (species)	Intraspecific	Candidate Gene	Johnson JA; Ambers AD; Burnham KK (2012 May-Jun) Genetics of plumage color in the Gyrfalcon (Falco rusticolus): analysis of the melanocortin-1 recept[...]	GP00000604	MC1R Q01726	Morphology	Val128Ile	Falco rusticolus gyrfalcon - (species)	Falco rusticolus gyrfalcon - (species)	MC1R	Falco rusticolus gyrfalcon - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Linkage Mapping	Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996) A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...] 1 Additional References Kerje S; Lind J; Schütz K (2003) Melanocortin 1-receptor (MC1R) mutations are associated with plumage colour in chicken.	GP00000605	MC1R Q01726	Morphology	E92K; constitutive activation	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Candidate Gene	Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996) A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]	GP00000606	MC1R Q01726	Morphology	C33W	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Candidate Gene	Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996) A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]	GP00000607	MC1R Q01726	Morphology	D37G	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Candidate Gene	Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996) A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]	GP00000608	MC1R Q01726	Morphology	L244P	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Candidate Gene	Kerje S; Lind J; Schütz K ; et al. (2003) Melanocortin 1-receptor (MC1R) mutations are associated with plumage colour in chicken.	GP00000609	MC1R Q01726	Morphology	H215P	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Malurus leucopterus white-winged fairy-wren - (species)	Intraspecific	Candidate Gene	Doucet SM; Shawkey MD; Rathburn MK ; et al. (2004) Concordant evolution of plumage colour, feather microstructure and a melanocortin receptor gene betw[...]	GP00000610	MC1R Q01726	Morphology	A16T caused by guanine-to-adenine (G_A) transition at site 46; and/or I38N cause by a tyrosine-to-adenine (T_A) transition at site 113; and/or V11N caused by a G_A transition at site 331; and/or Q157R caused by an A_G substitution at site 470; Val166Ileu - exact causing amino acid change(s) unknown	Malurus leucopterus white-winged fairy-wren - (species)	Malurus leucopterus white-winged fairy-wren - (species)	MC1R	Malurus leucopterus white-winged fairy-wren - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Stercorarius parasiticus (species)	Intraspecific	Candidate Gene	Mundy NI; Badcock NS; Hart T ; et al. (2004) Conserved genetic basis of a quantitative plumage trait involved in mate choice.	GP00000611	MC1R Q01726	Morphology	R230H	Stercorarius parasiticus (species)	Stercorarius parasiticus (species)	MC1R	Stercorarius parasiticus (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Sula leucogaster (species)	Intraspecific	Candidate Gene	Baião PC; Parker PG (2012 May-Jun) Evolution of the melanocortin-1 receptor (MC1R) in Boobies and Gannets (Aves, Suliformes).	GP00000612	MC1R Q01726	Morphology	R112H	Sula leucogaster (species)	Sula leucogaster (species)	MC1R	Sula leucogaster (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Sula sula red-footed booby - (species)	Intraspecific	Candidate Gene	Baião PC; Schreiber E; Parker PG (2007 Jul-Aug) The genetic basis of the plumage polymorphism in red-footed boobies (Sula sula): a melanocortin-1 re[...]	GP00000613	MC1R Q01726	Morphology	V85M and/or H207R; current data cannot determine which one or if both these substitutions are underlying the phenotypic variation	Sula sula red-footed booby - (species)	Sula sula red-footed booby - (species)	MC1R	Sula sula red-footed booby - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Smith R; Healy E; Siddiqui S ; et al. (1998) Melanocortin 1 receptor variants in an Irish population. 1 Additional References Smith R; Healy E; Siddiqui S (1998) Melanocortin 1 receptor variants in an Irish population.	GP00000615	MC1R Q01726	Morphology	R151C	Homo sapiens human - (species)	Homo sapiens human - (species) D	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Smith R; Healy E; Siddiqui S ; et al. (1998) Melanocortin 1 receptor variants in an Irish population. 1 Additional References Box NF; Wyeth JR; O'Gorman LE (1997) Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.	GP00000616	MC1R Q01726	Morphology	D294H	Homo sapiens human - (species)	Homo sapiens human - (species) D	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Smith R; Healy E; Siddiqui S ; et al. (1998) Melanocortin 1 receptor variants in an Irish population. 1 Additional References Box NF; Wyeth JR; O'Gorman LE (1997) Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.	GP00000617	MC1R Q01726	Morphology	R160W	Homo sapiens human - (species)	Homo sapiens human - (species) D	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Box NF; Wyeth JR; O'Gorman LE ; et al. (1997) Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. 3 Additional References Sulem P; Gudbjartsson DF; Stacey SN (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. Harding RM; Healy E; Ray AJ (2000) Evidence for variable selective pressures at MC1R. Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000618	MC1R Q01726	Morphology	Val60Leu	Homo sapiens human - (species)	Homo sapiens human - (species) D	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000619	MC1R Q01726	Morphology	Asp84Glu	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000620	MC1R Q01726	Morphology	Val92Met	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000621	MC1R Q01726	Morphology	Arg142His	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000622	MC1R Q01726	Morphology	Arg151Cys	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000623	MC1R Q01726	Morphology	Ile155Thr	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000624	MC1R Q01726	Morphology	Arg160Trp	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000625	MC1R Q01726	Morphology	Arg163Gln	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000626	MC1R Q01726	Morphology	Asp294His	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (scales)	Coding, SNP	Aspidoscelis inornatus Little striped whiptail - (species)	Intraspecific	Candidate Gene	Rosenblum EB; Hoekstra HE; Nachman MW (2004) Adaptive reptile color variation and the evolution of the Mc1r gene. 1 Additional References Rosenblum EB; Römpler H; Schöneberg T (2010) Molecular and functional basis of phenotypic convergence in white lizards at White Sands.	GP00000627	MC1R Q01726	Morphology	I170T	Aspidoscelis inornatus Little striped whiptail - (species)	Aspidoscelis inornatus Little striped whiptail - (species)	MC1R	Aspidoscelis inornatus Little striped whiptail - (species)	Published - Accepted by Curator
MC1R	Coloration (scales)	Coding, SNP	Holbrookia maculata lesser earless lizard - (species)	Intraspecific	Candidate Gene	Rosenblum EB; Hoekstra HE; Nachman MW (2004) Adaptive reptile color variation and the evolution of the Mc1r gene. 1 Additional References Rosenblum EB; Römpler H; Schöneberg T (2010) Molecular and functional basis of phenotypic convergence in white lizards at White Sands.	GP00000628	MC1R Q01726	Morphology	V168I; but failed functional validation in Rosenblum et al. 2010	Holbrookia maculata lesser earless lizard - (species)	Holbrookia maculata lesser earless lizard - (species)	MC1R	Holbrookia maculata lesser earless lizard - (species)	Published - Accepted by Curator
MC1R	Coloration (scales)	Coding, SNP	Sceloporus undulatus fence lizard - (species)	Intraspecific	Candidate Gene	Rosenblum EB; Römpler H; Schöneberg T ; et al. (2010) Molecular and functional basis of phenotypic convergence in white lizards at White Sands.	GP00000629	MC1R Q01726	Morphology	H208Y	Sceloporus undulatus fence lizard - (species)	Sceloporus undulatus fence lizard - (species)	MC1R	Sceloporus undulatus fence lizard - (species)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Lalueza-Fox C; Römpler H; Caramelli D ; et al. (2007) A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals.	GP00000630	MC1R Q01726	Morphology	Arg307Gly	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000632	MC1R Q01726	Morphology	V"92"M actually at 95	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000633	MC1R Q01726	Morphology	D"121"N Actually 124	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000634	MC1R Q01726	Morphology	A"161"V actually 164	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000635	MC1R Q01726	Morphology	L"99" P Actually 102	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000636	MC1R Q01726	Morphology	A"240"T actually 243	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Monarcha castaneiventris Makira monarch - (species) D	Intraspecific	Association Mapping	Uy JA; Cooper EA; Cutie S ; et al. (2016) Mutations in different pigmentation genes are associated with parallel melanism in island flycatcher[...]	GP00001333	MC1R Q01726	Morphology	Asp119Asn	Monarcha castaneiventris Makira monarch - (species)	Monarcha castaneiventris Makira monarch - (species) D	MC1R	Monarcha castaneiventris Makira monarch - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Candidate Gene	Rubin CJ; Megens HJ; Martinez Barrio A ; et al. (2012) Strong signatures of selection in the domestic pig genome. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00001337	MC1R Q01726	Morphology	c.G>A p.Asp124Asn	Sus scrofa pig - (species)	Sus scrofa d