SLC25A1 gene homepage

General information
Gene symbol SLC25A1
Gene name solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
Chromosome 22
Chromosomal band q11
Imprinted Unknown
Genomic reference NC_000022.10
Transcript reference NM_005984.3
Exon/intron information NM_005984.3 exon/intron table
Associated with diseases D2L2AD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Gajja Salomons and Eric Wever
Total number of public variants reported 10
Unique public DNA variants reported 10
Individuals with public variants 5
Hidden variants 24
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated December 04, 2019
Version SLC25A1:191204

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_005984.3.
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
Homepage URL
HGNC 10979
Entrez Gene 6576
PubMed articles SLC25A1
OMIM - Gene 190315
OMIM - Diseases D2L2AD (aciduria, combined d-2- and l-2-hydroxyglutaric (D2L2AD)
GeneCards SLC25A1
GeneTests SLC25A1

Active transcripts




NCBI ID     

NCBI Protein ID     

00019184 22 transcript variant 1 NM_005984.3 NP_005975.1 10

Copyright & disclaimer
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