rs142988897
This variant is located in the OCA2 gene.
▶ClinVar annotation
Tyrosinase-positive oculocutaneous albinism; not provided; Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Albinism or congenital nystagmus
View on ClinVar →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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