NDUFA2 gene homepage - MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

NDUFA2 gene homepage

General information
Gene symbol	NDUFA2
Gene name	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
Chromosome	5
Chromosomal band	q31.2
Imprinted	Unknown
Genomic reference	NC_000005.9
Transcript reference	NM_001185012.1, NM_002488.4, NR_033697.1
Associated with diseases	618235
Citation reference(s)	-
Curators (0)	-
Total number of public variants reported	11
Unique public DNA variants reported	11
Individuals with public variants	0
Hidden variants	0
Download all this gene's data	Download all data
Notes	MSeqDR-LSDB
Date created	November 07, 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	7685
Entrez Gene	4695
PubMed articles	NDUFA2
OMIM - Gene	602137
OMIM - Diseases	618235 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13)
HGMD	NDUFA2
GeneCards	NDUFA2
GeneTests	NDUFA2

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
00000189	5	transcript variant 1	NM_002488.4	NP_002479.1	11
00000190	5	transcript variant 2	NM_001185012.1	NP_001171941.1	11
00000191	5	transcript variant 3	NR_033697.1	-	11

Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/