SLC13A5 gene homepage

General information
Gene symbol SLC13A5
Gene name solute carrier family 13 (sodium-dependent citrate transporter), member 5
Chromosome 17
Chromosomal band p13.1
Imprinted Unknown
Genomic reference NC_000017.10
Transcript reference NM_177550.3
Exon/intron information NM_177550.3 exon/intron table
Associated with diseases EIEE-25
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Martina Witsch-Baumgartner
Total number of public variants reported 35
Unique public DNA variants reported 19
Individuals with public variants 14
Hidden variants 2
Download all this gene's data Download all data
Date created May 03, 2013
Date last updated July 19, 2019
Version SLC13A5:190719

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_177550.3.
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 http://www.LOVD.nl/SLC13A5
HGNC 23089
Entrez Gene 284111
PubMed articles SLC13A5
OMIM - Gene 608305
OMIM - Diseases EIEE-25 (encephalopathy, epileptic, early infantile, type 25 (EIEE-25))
HGMD SLC13A5
GeneCards SLC13A5
GeneTests SLC13A5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00019111 17 transcript variant 1 NM_177550.3 NP_808218.1 35


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