rs747953638
This variant is located in the PRPS2 gene.
▶ClinVar annotation
About PRPS2
This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
View all PRPS2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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