rs139818568

This variant is located in the ST6GAL1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About ST6GAL1

This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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