rs558728514

This variant is located in the B4GALNT1 gene.

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ClinVar annotation

Benign★☆☆☆

1 submitter

About B4GALNT1

GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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