SLC25A12 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information
Gene symbol	SLC25A12
Gene name	solute carrier family 25 (aspartate/glutamate carrier), member 12
Chromosome	2
Chromosomal band	q24
Imprinted	Unknown
Genomic reference	NC_000002.11
Transcript reference	NM_003705.4, NR_047549.1
Associated with diseases	612949
Citation reference(s)	-
Curators (0)	-
Total number of public variants reported	41
Unique public DNA variants reported	40
Individuals with public variants	0
Hidden variants	0
Download all this gene's data	Download all data
Notes	MSeqDR-LSDB
Date created	November 12, 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	10982
Entrez Gene	8604
PubMed articles	SLC25A12
OMIM - Gene	603667
OMIM - Diseases	612949 (Hypomyelination, global cerebral, 612949 (3))
HGMD	SLC25A12
GeneCards	SLC25A12
GeneTests	SLC25A12

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
00001147	2	transcript variant 2	NR_047549.1	-	41
00001148	2	transcript variant 1	NM_003705.4	NP_003696.2	41

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; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium