rs988209505
This variant is located in the SSPN gene.
▶ClinVar annotation
About SSPN
This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
View all SSPN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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