TPMT gene homepage

General information
Gene symbol TPMT
Gene name thiopurine S-methyltransferase
Chromosome 6
Chromosomal band p22.3
Imprinted Unknown
Genomic reference NG_012137.2
Transcript reference NM_000367.2
Exon/intron information NM_000367.2 exon/intron table
Associated with diseases TPMT
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Simran Maggo
Total number of public variants reported 383
Unique public DNA variants reported 63
Individuals with public variants 2832
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's 7th Framework Programme under grant agreement No 200754 - the GEN2PHEN project.
We gratefully acknowledge the work of Sally Coulthard (Newcastle upon Tyne, until end 2014) and Malin Lindqvist Appell (Linköping, until end 2015) for curating the TMPT database.
TPMT reference haplotypes in this database.
Download the current TPMT reference haplotype list (ver.2015-05-19).
Date created April 29, 2010
Date last updated December 19, 2018
Version TPMT:181219

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_000367.2.
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/TPMT
External URL TPMT allele nomenclature committee
Orphanet
PharmGKB TPMT
HGNC 12014
Entrez Gene 7172
PubMed articles TPMT
OMIM - Gene 187680
OMIM - Diseases TPMT (thiopurine S-methyltransferase deficiency (TPMT))
HGMD TPMT
GeneCards TPMT
GeneTests TPMT


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021695 6 thiopurine S-methyltransferase NM_000367.2 NP_000358.1 383


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 © 2010-2019. 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.