The TRPM1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol TRPM1
Gene name transient receptor potential cation channel, subfamily M, member 1
Chromosome 15
Chromosomal band q13.3
Imprinted Unknown
Genomic reference NG_016453.1
Transcript reference NM_001252020.1, NM_002420.5
Exon/intron information NM_002420.5 exon/intron table
Associated with diseases CSNB-1C
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 143
Unique public DNA variants reported 114
Individuals with public variants 181
Hidden variants 5
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Date created January 06, 2012
Date last updated September 15, 2020
Version TRPM1:200915

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_002420.5.
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 Orphanet
HGNC 7146
Entrez Gene 4308
PubMed articles TRPM1
OMIM - Gene 603576
OMIM - Diseases CSNB-1C (blindness, night, stationary, congenital, type 1C (CSNB-1C))
GeneCards TRPM1
GeneTests TRPM1

Active transcripts




NCBI ID     

NCBI Protein ID     

00021906 15 transcript variant 2 NM_002420.5 NP_002411.3 143
00025545 15 transcript variant 1 NM_001252020.1 NP_001238949.1 118

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 © 2012-2020. 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.