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 exon/intron table
Associated with diseases ID, ISSD, SD
Citation reference(s) Verheijen et al. 1999 Haataja et al. 1994
Refseq URL Genomic reference sequence
Curators (1) Juha Muilu
Total number of public variants reported 35
Unique public DNA variants reported 30
Individuals with public variants 4
Hidden variants 0
Download all this gene's data Download all data
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 December 22, 2018
Version SLC17A5:181222

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_012434.4.
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))
GeneCards SLC17A5
GeneTests SLC17A5

Active transcripts




NCBI ID     

NCBI Protein ID     

00000286 6 solute carrier family 17 (anion/sugar transporter), member 5 NM_012434.4 NP_036566.1 35

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.