MFSD12
Coloration (coat)
Coding,
Insertion
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Tanaka J; Leeb T; Rushton J ; et al. (2019)
Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.
GP00002243
MFSD12
Q6NUT3
Morphology
p.(Asp201fs) due to c.600Cins N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
MFSD12
Equus caballus
horse - (species)
Published - Accepted by Curator
MFSD12
Coloration (coat)
Coding,
SNP
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Hédan B; Cadieu E; Botherel N ; et al. (2019)
Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White[...]
GP00002244
MFSD12
Q6NUT3
Morphology
c.151C>T p.Arg51Cys N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
MFSD12
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MFSD12
Coloration (skin)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Adhikari K; Mendoza-Revilla J; Sohail A ; et al. (2019)
A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasi[...]
1 Additional References
GP00002245
MFSD12
Q6NUT3
Morphology
Y182H N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MFSD12
Homo sapiens
human - (species)
Published - Accepted by Curator
MFSD12
Coloration (skin)
Cis-regulatory,
Complex Change
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Crawford NG; Kelly DE; Hansen MEB ; et al. (2017)
Loci associated with skin pigmentation identified in African populations.
GP00002246
MFSD12
Q6NUT3
Morphology
eight potentially causal SNPs cluster in two regions: one within MFSD12 (intronic SNP and synonymous SNP in exon 9) and the other ~7600 to 9000 base pairs (bp) upstream of MFSD12 ; many SNPs are in predicted regulatory regions active in melanocytes and/or keratinocytes show enhancer activity in luciferase expression assays N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MFSD12
Homo sapiens
human - (species)
Published - Accepted by Curator