rs1942754853

This variant is located in the SIAE gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter1 publication
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About SIAE

This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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