NDUFA12 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol NDUFA12
Gene name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
Chromosome 12
Chromosomal band q22
Imprinted Unknown
Genomic reference NC_000012.11
Transcript reference NM_001258338.1, NM_018838.4
Associated with diseases 618244
Citation reference(s) -
Curators (0) -
Total number of public variants reported 2
Unique public DNA variants reported 1
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 23987
Entrez Gene 55967
PubMed articles NDUFA12
OMIM - Gene 614530
OMIM - Diseases 618244 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23)
HGMD NDUFA12
GeneCards NDUFA12
GeneTests NDUFA12


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000187 12 transcript variant 2 NM_001258338.1 NP_001245267.1 2
00000188 12 transcript variant 1 NM_018838.4 NP_061326.1 2


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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium