The TSHR gene homepage

General information
Gene symbol TSHR
Gene name thyroid stimulating hormone receptor
Chromosome 14
Chromosomal band q24-q31
Imprinted Unknown
Genomic reference NG_009206.1
Transcript reference NM_000369.2
Associated with diseases CHNG1, Hyperthyroidism, familial gestational, Hyperthyroidism, nonautoimmune
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 69
Unique public DNA variants reported 54
Individuals with public variants 5
Hidden variants 3
Date created September 13, 2012
Date last updated March 16, 2021
Version TSHR:210316

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
HGNC 12373
Entrez Gene 7253
PubMed articles TSHR
OMIM - Gene 603372
OMIM - Diseases CHNG1 (hypothyroidism, congenital, nongoitrous, type 1 (CHNG1))
Hyperthyroidism, familial gestational
Hyperthyroidism, nonautoimmune
GeneCards TSHR
GeneTests TSHR
Orphanet TSHR

Active transcripts




NCBI ID     

NCBI Protein ID     

00000371 14 transcript variant 1 NM_000369.2 NP_000360.2 69

Copyright & disclaimer
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