CPT1B gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol CPT1B
Gene name carnitine palmitoyltransferase 1B (muscle)
Chromosome 22
Chromosomal band q13.33
Imprinted Unknown
Genomic reference NC_000022.10
Transcript reference NM_001145134.1, NM_001145135.1, NM_001145136.1, NM_001145137.1, NM_004377.3, NM_152245.2, NM_152246.2
Associated with diseases -
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 15, 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 2329
Entrez Gene 1375
PubMed articles CPT1B
OMIM - Gene 601987
HGMD CPT1B
GeneCards CPT1B
GeneTests CPT1B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001759 22 transcript variant 5 NM_001145134.1 NP_001138606.1 41
00001760 22 transcript variant 7 NM_001145136.1 NP_001138608.1 41
00001761 22 transcript variant 6 NM_001145135.1 NP_001138607.1 41
00001762 22 transcript variant 2 NM_152245.2 NP_689451.1 41
00001763 22 transcript variant 3 NM_152246.2 NP_689452.1 41
00001764 22 transcript variant 1 NM_004377.3 NP_004368.1 41
00001765 22 transcript variant 8 NM_001145137.1 NP_001138609.1 41


Copyright & disclaimer
; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium