rs12592307

This variant is located in the OCA2 gene.

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ClinVar annotation

Benign★★★☆
7 submitters2 publications

not specified; Tyrosinase-positive oculocutaneous albinism; not provided

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Research that mentions this SNP (2)

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Identification of candidate genes carrying polymorphisms associated with the risk of colorectal cancer by analyzing the colorectal mutome and microRNAome
FunctionalN=23Debora Landi et al.(2012)· Cancer

Bioinformatics analysis of exome sequencing data from 23 colorectal cancer patients treated with Cetuximab to identify candidate genes explaining differential skin rash response. Using a novel Molecular Systems Map approach, the study identified 12 candidate genes (C3, CCNK, CD86, CDH11, COL4A4, GRIP2, NUP210, P3H3, STUB1, TLR5, KISS1, ERMAP) with variants potentially affecting EGFR signaling, immune response, and cell adhesion pathways.

Traits studied:Cetuximab-induced skin rash in colorectal cancer
PubMedDOIMetascience Observatory
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SLC45A2: a novel malignant melanoma-associated gene
AssociationN=376Fernandez LP et al.(2008)· Human Mutation

A Spanish case-control study (131 melanoma patients, 245 controls) investigated 23 SNPs in six pigmentation genes (ASP, OCA2, TYR, TYRP1, SILV, SLC45A2) for melanoma susceptibility. The variant allele of SLC45A2 c.1122C>G (p.Phe374Leu, rs16891982) was associated with protection from melanoma (OR 0.41, 95% CI 0.24-0.70, adjusted P=0.008), validated by associations with dark hair, skin, and eye color.

Traits studied:Childhood sunburnsEye colorHair colorMalignant melanomaPhototypeSkin colorSolar lentiginesTumor depth (Breslow index)Tumor location
PubMedDOIMetascience Observatory

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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