The PRIMPOL gene homepage

General information
Gene symbol PRIMPOL
Gene name primase and polymerase (DNA-directed)
Chromosome 4
Chromosomal band q35.1
Imprinted Unknown
Genomic reference NC_000004.11
Transcript reference NM_152683.2, XM_005262810.2, XM_005262811.2, XM_005262812.2, XM_005262813.2, XM_005262814.1, XM_005262815.1, XM_005262816.2, XM_005262817.2, XM_005262818.2
Associated with diseases MYP-22
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 140
Unique public DNA variants reported 17
Individuals with public variants 35
Hidden variants 12
Date created November 30, -0001
Date last updated September 28, 2016
Version PRIMPOL:160928

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:26575
Entrez Gene 201973
PubMed articles PRIMPOL
OMIM - Gene 615421
OMIM - Diseases MYP-22 (myopia, autosomal dominant, type 22 (MYP-22))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00013594 4 primase and polymerase (DNA-directed) NM_152683.2 NP_689896.1 140
00044650 4 transcript variant X3 XM_005262812.2 XP_005262869.2 -
00044651 4 transcript variant X4 XM_005262813.2 XP_005262870.2 -
00044652 4 transcript variant X6 XM_005262815.1 XP_005262872.1 -
00044653 4 transcript variant X1 XM_005262810.2 XP_005262867.2 -
00044654 4 transcript variant X5 XM_005262814.1 XP_005262871.1 -
00044655 4 transcript variant X9 XM_005262818.2 XP_005262875.1 -
00044656 4 transcript variant X7 XM_005262816.2 XP_005262873.1 -
00044657 4 transcript variant X2 XM_005262811.2 XP_005262868.2 -
00044658 4 transcript variant X8 XM_005262817.2 XP_005262874.1 -