rs139430146
This variant is located in the TRPV5 gene.
▶ClinVar annotation
About TRPV5
This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]
View all TRPV5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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