LOVD PRPS1 homepage

General information
Gene name phosphoribosyl pyrophosphate synthetase 1
Gene symbol PRPS1
Chromosome Location Xq21-q27
Database location the Leiden Muscular Dystrophy pages
Curator Johan den Dunnen
PubMed references View all (unique) PubMed references in the PRPS1 database
Date of creation May 23, 2012
Last update March 29, 2013
Version PRPS1 130329
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Genomic refseq ID NG_008407.1
Transcript refseq ID NM_002764.3
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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NOTE Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the PRPS1 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 9462
Entrez Gene 5631
OMIM - Gene 311850
HGMD PRPS1
GeneCards PRPS1
GeneTests PRPS1

Copyright & disclaimer
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