TMEM70 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information
Gene symbol	TMEM70
Gene name	transmembrane protein 70
Chromosome	8
Chromosomal band	q21.11
Imprinted	Unknown
Genomic reference	NC_000008.10
Transcript reference	NM_001040613.2, NM_017866.5, NR_033334.1
Associated with diseases	614052
Citation reference(s)	-
Curators (0)	-
Total number of public variants reported	63
Unique public DNA variants reported	61
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	26050
Entrez Gene	54968
PubMed articles	TMEM70
OMIM - Gene	612418
OMIM - Diseases	614052 (Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3))
HGMD	TMEM70
GeneCards	TMEM70
GeneTests	TMEM70

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
00000334	8	transcript variant 2	NM_001040613.2	NP_001035703.1	63
00000335	8	transcript variant 3	NR_033334.1	-	63
00000336	8	transcript variant 1	NM_017866.5	NP_060336.3	63

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