View SLC17A5 gene homepage

General information
Gene symbol SLC17A5
Gene name solute carrier family 17 (anion/sugar transporter), member 5
Chromosome 6
Chromosomal band q13
Imprinted Unknown
Genomic reference NG_008272.1
Transcript reference NM_012434.4
Exon/intron information NM_012434.4
Associated with diseases ID, ISSD, SD
Citation reference(s) Verheijen et al. 1999 Haataja et al. 1994
Refseq URL Genomic reference sequence
Curators (2) Anne Polvi and Juha Muilu
Total number of public variants reported 18
Unique public DNA variants reported 18
Individuals with public variants 3
Hidden variants 0
Notes Only mutations associated with Salla disease (SD) are shown.

The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66).
Date created August 30, 2012
Date last updated August 05, 2016
Version SLC17A5:160805

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
External URL Finnish Disease Database (FinDis)
HGNC 10933
Entrez Gene 26503
PubMed articles SLC17A5
OMIM - Gene 604322
OMIM - Diseases ISSD (sialic acid storage disorder, infantile (ISSD))
SD (Salla disease (SD))
HGMD SLC17A5
GeneCards SLC17A5
GeneTests SLC17A5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000286 6 solute carrier family 17 (anion/sugar transporter), member 5 NM_012434.4 NP_036566.1 18


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