rs375182518

This variant is located in the SLC12A2 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Inborn genetic diseases; not provided

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About SLC12A2

The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

View all SLC12A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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