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

TAZ gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information

Gene symbol

TAZ

Gene name

tafazzin

Chromosome

Chromosomal band

q28

Imprinted

Unknown

Genomic reference

NC_000023.10

Transcript reference

NM_000116.3, NM_181311.2, NM_181312.2, NM_181313.2, NR_024048.1

Associated with diseases

BTHS

Citation reference(s)

Curators (0)

Total number of public variants reported

403

Unique public DNA variants reported

233

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

BTHS (BARTH SYNDROME)

HGMD

TAZ

GeneCards

TAZ

GeneTests

TAZ

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
00000320	X	transcript variant 5	NR_024048.1	-	403
00000321	X	transcript variant 1	NM_000116.3	NP_000107.1	403
00000322	X	transcript variant 3	NM_181312.2	NP_851829.1	403
00000323	X	transcript variant 2	NM_181311.2	NP_851828.1	403
00000324	X	transcript variant 4	NM_181313.2	NP_851830.1	403

Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium