rs186846312

This variant is located in the SRGN gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About SRGN

This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene. [provided by RefSeq, Jul 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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