rs6133

This is a variant in the SELP gene that changes a valine to an leucine.

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ClinVar annotation

Benign
1 submitter1 publication

SELECTIN P POLYMORPHISM

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Research that mentions this SNP (1)

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Candidate gene analysis of selectin cluster in patients with multiple sclerosis
AssociationN=486Chiara Fenoglio et al.(2009)· Journal of Neurology

Candidate gene analysis of three SNPs (rs6133, rs4987310, rs5368) in selectin genes (P-selectin, L-selectin, E-selectin) in Italian (165 MS patients, 149 controls) and American (122 MS patients, 50 controls) populations found no significant association with multiple sclerosis susceptibility in Caucasians, despite selectins' known role in MS pathogenesis.

Traits studied:Multiple Sclerosis
PubMedDOIMetascience Observatory

About SELP

This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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