rs987780496
This variant is located in the OCA2 gene.
▶ClinVar annotation
not provided; Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism
View on ClinVar →▶Research that mentions this SNP (1)
▶The R402Q tyrosinase variant does not cause autosomal recessive ocular albinismReviewOetting WS et al.(2009)· American Journal of Medical Genetics Part A
Genome-wide association studies and comparative genomics have identified major pigmentation loci (SLC24A5, SLC45A2, TYR, OCA2, MC1R, IRF4, TPCN2) showing evidence of strong natural selection in human populations. Light skin variants in Europeans and Asians underwent complete or near-complete selective sweeps, with SLC24A5 rs1426654 and SLC45A2 variants representing independent evolutionary mechanisms. Critical skin-lightening variants arose 11,000-30,000 years ago during human demographic expansion, driven by UV radiation exposure, vitamin D synthesis requirements, and possibly sexual selection.
About OCA2
This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
View all OCA2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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