CPT2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information
Gene symbol	CPT2
Gene name	carnitine palmitoyltransferase 2
Chromosome	1
Chromosomal band	p32
Imprinted	Unknown
Genomic reference	NC_000001.10
Transcript reference	NM_000098.2
Associated with diseases	255110, 608836, CPT II
Citation reference(s)	-
Curators (0)	-
Total number of public variants reported	100
Unique public DNA variants reported	87
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	2330
Entrez Gene	1376
PubMed articles	CPT2
OMIM - Gene	600650
OMIM - Diseases	255110 (CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET) 608836 (CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL) CPT II (CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE)
HGMD	CPT2
GeneCards	CPT2
GeneTests	CPT2

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000665	1	carnitine palmitoyltransferase 2	NM_000098.2	NP_000089.1	100

Copyright & disclaimer
; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium