rs199561187

This variant is located in the SLC35D1 gene.

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ClinVar annotation

Conflicting Classifications

3 submitters1 publication

not provided; Schneckenbecken dysplasia; Inborn genetic diseases

About SLC35D1

Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]

View all SLC35D1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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