rs2511380357

This variant is located in the SLC14A2 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About SLC14A2

The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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