rs779507983

This variant is located in the SNX17 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About SNX17

This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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