rs369182233

This variant is located in the ST6GALNAC1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter

not specified

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About ST6GALNAC1

Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]

View all ST6GALNAC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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