rs397514587
This is a synonymous variant in the ALG13 gene — it does not change the protein's amino acid sequence.
About ALG13
The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
View all ALG13 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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