The PGK1 gene homepage

General information
Gene symbol PGK1
Gene name phosphoglycerate kinase 1
Chromosome X
Chromosomal band q13.3
Imprinted Unknown
Genomic reference NG_008862.1
Transcript reference NM_000291.3
Associated with diseases ID, deficiency, phosphoglycerate kinase 1
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 7
Unique public DNA variants reported 1
Individuals with public variants 7
Hidden variants -
Date created November 30, -0001
Date last updated September 20, 2016
Version PGK1:160920

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:8896
Entrez Gene 5230
PubMed articles PGK1
OMIM - Gene 311800
OMIM - Diseases deficiency, phosphoglycerate kinase 1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00028667 X phosphoglycerate kinase 1 NM_000291.3 NP_000282.1 7