rs193245057

This variant is located in the SLC29A2 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About SLC29A2

The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM, Nov 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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