The HPRT1 gene homepage

General information
Gene symbol HPRT1
Gene name hypoxanthine phosphoribosyltransferase 1
Chromosome X
Chromosomal band q26.2
Imprinted Unknown
Genomic reference NG_012329.1
Transcript reference NM_000194.2
Associated with diseases Kelley-Seegmiller syndrome, Lesch-Nyhan syndrome
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 35
Unique public DNA variants reported 32
Individuals with public variants 6
Hidden variants 5
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated May 24, 2021
Version HPRT1:210524

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 5157
Entrez Gene 3251
PubMed articles HPRT1
OMIM - Gene 308000
OMIM - Diseases Kelley-Seegmiller syndrome
Lesch-Nyhan syndrome
GeneCards HPRT1
GeneTests HPRT1
Orphanet HPRT1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000059 X hypoxanthine phosphoribosyltransferase 1 NM_000194.2 NP_000185.1 35

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