rs78242949

This is a variant in the SLC14A1 gene that changes a serine to an proline.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Jk-null variant, finnish type

About SLC14A1

The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]

View all SLC14A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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