The PRPS2 gene homepage

General information
Gene symbol PRPS2
Gene name phosphoribosyl pyrophosphate synthetase 2
Chromosome X
Chromosomal band pter-q21
Imprinted Unknown
Genomic reference NG_016717.1
Transcript reference NM_002765.4
Associated with diseases -
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 23
Unique public DNA variants reported 17
Individuals with public variants 41
Hidden variants 0
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated September 17, 2021
Version PRPS2:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 9465
Entrez Gene 5634
PubMed articles PRPS2
OMIM - Gene 311860
HGMD PRPS2
GeneCards PRPS2
GeneTests PRPS2
Orphanet PRPS2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000912 X transcript variant 2 NM_002765.4 NP_002756.1 23


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