EGFR
Coloration (skin)
Unknown,
Unknown
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Quillen EE; Bauchet M; Bigham AW ; et al. (2012)
OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...]
GP00001537
EGFR
P00533
Morphology
A>T associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
EGFR
Homo sapiens
human - (species)
Published - Accepted by Curator
EIF2S2
Coloration (skin)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Liu F; Visser M; Duffy DL ; et al. (2015)
Genetics of skin color variation in Europeans: genome-wide association studies with functional follo[...]
GP00001359
EIF2S2
P20042
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
EIF2S2
Homo sapiens
human - (species)
Published - Accepted by Curator
GSS (glutathione synthetase)
Coloration (skin)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Liu F; Visser M; Duffy DL ; et al. (2015)
Genetics of skin color variation in Europeans: genome-wide association studies with functional follo[...]
GP00001362
GSS
P48637
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
GSS (glutathione synthetase)
Homo sapiens
human - (species)
Published - Accepted by Curator
IRF4
Coloration (skin)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Praetorius C; Grill C; Stacey SN ; et al. (2013)
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway[...]
1 Additional References
GP00001364
IRF4
Q15306
Morphology
a C>T substitution in intron4 located within an enhancer
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
IRF4
Homo sapiens
human - (species)
Published - Accepted by Curator
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,
Insertion
N
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Linkage Mapping
Kijas JM; Moller M; Plastow G ; et al. (2001)
A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pig[...]
1 Additional References
GP00000631
MC1R
Q01726
Morphology
2bp insertion at 23 generates early stop @ 56 & D"121"N ? N
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
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
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
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
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
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
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
Oca2
Coloration (skin)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Edwards M; Bigham A; Tan J ; et al. (2010)
Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: furth[...]
1 Additional References
GP00000748
Oca2
Q62052
Morphology
His615Arg
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Oca2
Homo sapiens
human - (species)
Published - Accepted by Curator
OPRM1
Coloration (skin)
Unknown,
Unknown
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Quillen EE; Bauchet M; Bigham AW ; et al. (2012)
OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...]
GP00001536
OPRM1
P35372
Morphology
C>T associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
OPRM1
Homo sapiens
human - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (skin)
Coding,
SNP
Panthera leo
lion - (species) D
Intraspecific
Association Mapping
Cho YS; Hu L; Hou H ; et al. (2013)
The tiger genome and comparative analysis with lion and snow leopard genomes.
GP00001346
Tyr
P11344
Morphology
c.260G>A p.Arg87Gln
Panthera leo
lion - (species)
Panthera leo
lion - (species) D
tyrosinase (TYR)
Panthera leo
lion - (species)
Published - Accepted by Curator