rs749544685

This is a variant in the SLC45A2 gene that changes a leucine to an proline.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters3 publications

Oculocutaneous albinism type 4 (OCA4); SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR (SHEP5)

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About SLC45A2

This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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