rs370966067
This variant is located in the TPCN2 gene.
▶ClinVar annotation
About TPCN2
This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009]
View all TPCN2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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