SLC25A22 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol SLC25A22
Gene name solute carrier family 25 (mitochondrial carrier: glutamate), member 22
Chromosome 11
Chromosomal band p15.5
Imprinted Unknown
Genomic reference NC_000011.9
Transcript reference NM_001191060.1, NM_001191061.1, NM_024698.5
Associated with diseases EIEE3
Citation reference(s) -
Curators (0) -
Total number of public variants reported 18
Unique public DNA variants reported 15
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 19954
Entrez Gene 79751
PubMed articles SLC25A22
OMIM - Gene 609302
OMIM - Diseases EIEE3 (Epileptic encephalopathy, early infantile, 3, 609304 (3))
HGMD SLC25A22
GeneCards SLC25A22
GeneTests SLC25A22


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00001159 11 transcript variant 3 NM_001191061.1 NP_001177990.1 18
00001160 11 transcript variant 1 NM_001191060.1 NP_001177989.1 18
00001161 11 transcript variant 2 NM_024698.5 NP_078974.1 18


Copyright & disclaimer
; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

  Powered by LOVD v.3.0 Build 21
LOVD software ©2004-2018 Leiden University Medical Center