rs147601285
This variant is located in the SLC24A5 gene.
▶ClinVar annotation
Pathogenic★★★☆
5 submitters4 publicationsAbout SLC24A5
This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
View all SLC24A5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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