View SLC16A2 gene homepage

General information
Gene symbol SLC16A2
Gene name solute carrier family 16, member 2 (thyroid hormone transporter)
Chromosome X
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NG_011641.1
Transcript reference NM_006517.4
Exon/intron information NM_006517.4
Associated with diseases AHDS, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 4
Unique public DNA variants reported 4
Individuals with public variants 4
Hidden variants 0
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. The database was initiated associated with Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543.
Date created March 06, 2009
Date last updated June 10, 2014
Version SLC16A2:140610

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
Homepage URL http://www.LOVD.nl/SLC16A2
External URL Orphanet
HGNC 10923
Entrez Gene 6567
PubMed articles SLC16A2
OMIM - Gene 300095
OMIM - Diseases AHDS (MCT-8)
HGMD SLC16A2
GeneCards SLC16A2
GeneTests SLC16A2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00019120 X solute carrier family 16, member 2 (thyroid hormone transporter) NM_006517.4 NP_006508.2 4


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