View SLC26A2 gene homepage

General information
Gene symbol SLC26A2
Gene name solute carrier family 26 (sulfate transporter), member 2
Chromosome 5
Chromosomal band q31-q34
Imprinted Unknown
Genomic reference LRG_684
Transcript reference NM_000112.3
Associated with diseases ACG-1B, AO-2, DTD, EDM-4
Citation reference(s) -
Curators (1) Juha Muilu
Total number of public variants reported 67
Unique public DNA variants reported 33
Individuals with public variants 35
Hidden variants 2
Notes 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 April 05, 2011
Date last updated December 16, 2016
Version SLC26A2:161216

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 Orphanet
Finnish Disease Database (FinDis)
HGNC 10994
Entrez Gene 1836
PubMed articles SLC26A2
OMIM - Gene 606718
OMIM - Diseases ACG-1B (achondrogenesis, type IB (ACG-1B))
AO-2 (atelosteogenesis, type II (AO-2, De la Chapelle dysplasia))
DTD (dysplasia, diastrophic (DTD))
EDM-4 (dysplasia, epiphyseal, multiple, type 4 (EDM-4))
HGMD SLC26A2
GeneCards SLC26A2
GeneTests SLC26A2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000137 5 solute carrier family 26 (sulfate transporter), member 2 NM_000112.3 NP_000103.2 67


Copyright & disclaimer
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