rs150330993

This variant is located in the SLC4A8 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About SLC4A8

The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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