rs13259978

This is a variant in the SLC7A2 gene that changes a aspartate to an histidine.

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ClinVar annotation

Benign

1 submitter

SLC7A2-related disorder

About SLC7A2

The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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