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

TSFM gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information

Gene symbol

TSFM

Gene name

Ts translation elongation factor, mitochondrial

Chromosome

Chromosomal band

q14.1

Imprinted

Unknown

Genomic reference

NC_000012.11

Transcript reference

NM_001172695.1, NM_001172696.1, NM_001172697.1, NM_005726.5

Associated with diseases

COXPD3

Citation reference(s)

Curators (0)

Total number of public variants reported

Unique public DNA variants reported

Individuals with public variants

Hidden variants

Download all this gene's data

Download all data

Notes

MSeqDR-LSDB

Date created

November 07, 2013

Graphical displays and utilities

Graphs

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

Entrez Gene

PubMed articles

OMIM - Gene

OMIM - Diseases

COXPD3 (Combined oxidative phosphorylation deficiency 3, 610505 (3))

HGMD

TSFM

GeneCards

TSFM

GeneTests

TSFM

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
00000347	12	transcript variant 4	NM_001172697.1	NP_001166168.1	34
00000348	12	transcript variant 1	NM_001172696.1	NP_001166167.1	34
00000349	12	transcript variant 2	NM_005726.5	NP_005717.3	34
00000350	12	transcript variant 3	NM_001172695.1	NP_001166166.1	34

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