The 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) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 62
Unique public DNA variants reported 47
Individuals with public variants 122
Hidden variants 2
Download all this gene's data Download all data
Notes 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). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created August 30, 2012
Date last updated May 09, 2022
Version SLC17A5:220509

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
Homepage URL
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
Orphanet 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 62

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2012-2022. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.