SLC22A5 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol SLC22A5
Gene name solute carrier family 22 (organic cation/carnitine transporter), member 5
Chromosome 5
Chromosomal band q23.3
Imprinted Unknown
Genomic reference NC_000005.9
Transcript reference NM_003060.3, XM_005272055.1, XM_005272056.1
Associated with diseases CDSP
Citation reference(s) -
Curators (0) -
Total number of public variants reported 128
Unique public DNA variants reported 123
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 10969
Entrez Gene 6584
PubMed articles SLC22A5
OMIM - Gene 603377
OMIM - Diseases CDSP (CARNITINE DEFICIENCY, SYSTEMIC PRIMARY)
HGMD SLC22A5
GeneCards SLC22A5
GeneTests SLC22A5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001145 5 solute carrier family 22 (organic cation/carnitine transporter), member 5 NM_003060.3 NP_003051.1 128
00001144 5 transcript variant X1 XM_005272055.1 XP_005272112.1 124
00001146 5 transcript variant X2 XM_005272056.1 XP_005272113.1 124


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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium