CHKB gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol CHKB
Gene name choline kinase beta
Chromosome 22
Chromosomal band q13.33
Imprinted Unknown
Genomic reference NC_000022.10
Transcript reference NM_005198.4
Associated with diseases MDCMC
Citation reference(s) -
Curators (0) -
Total number of public variants reported 41
Unique public DNA variants reported 39
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 2013

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 1938
Entrez Gene 1120
PubMed articles CHKB
OMIM - Gene 612395
OMIM - Diseases MDCMC (MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE)
HGMD CHKB
GeneCards CHKB
GeneTests CHKB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000604 22 choline kinase beta NM_005198.4 NP_005189.2 41


Copyright & disclaimer
; NuclearMitome http://www.transgenomic.com

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium