The SLC25A13 gene homepage

General information
Gene symbol SLC25A13
Gene name solute carrier family 25 (aspartate/glutamate carrier), member 13
Chromosome 7
Chromosomal band q21.3
Imprinted Unknown
Genomic reference NG_012247.1
Transcript reference NM_014251.2
Exon/intron information NM_014251.2 exon/intron table
Associated with diseases CTLN-2, NICCD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 148
Unique public DNA variants reported 57
Individuals with public variants 307
Hidden variants 1
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 March 20, 2009
Date last updated August 17, 2020
Version SLC25A13:200817

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_014251.2.
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 https://www.LOVD.nl/SLC25A13
HGNC 10983
Entrez Gene 10165
PubMed articles SLC25A13
OMIM - Gene 603859
OMIM - Diseases CTLN-2 (citrullinemia, type II (CTLN-2))
NICCD (citrullinemia, type II, neonatal-onset (neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)))
HGMD SLC25A13
GeneCards SLC25A13
GeneTests SLC25A13
Orphanet SLC25A13


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00019195 7 solute carrier family 25, member 13 (citrin), transcript variant 2 NM_014251.2 NP_055066.1 148


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