rs74403861

This variant is located in the SLC36A2 gene.

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ClinVar annotation

Likely Benign★★★☆
2 submitters2 publications

not provided; Hyperglycinuria;Iminoglycinuria

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About SLC36A2

This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010]

View all SLC36A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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