rs71324991
This variant is located in the GMPPB gene.
▶ClinVar annotation
About GMPPB
This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]
View all GMPPB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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