SEPN1 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol SEPN1
Gene name selenoprotein N, 1
Chromosome 1
Chromosomal band p36.13
Imprinted Unknown
Genomic reference NC_000001.10
Transcript reference NM_020451.2
Exon/intron information NM_020451.2 exon/intron table
Associated with diseases CFTD, RSMD, RSMD-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Johan den Dunnen and Tom Winder
Total number of public variants reported 475
Unique public DNA variants reported 141
Individuals with public variants 1325
Hidden variants 10
Download all this gene's data Download all data
Notes NOTE: gene symbol was recently changed from SEPN1 to SELENON.
Alias SEPN1, MDRS1, RSMD1.
This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Date created September 18, 2008
Date last updated June 24, 2020
Version SEPN1:200624

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_020451.2.
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
HGNC 15999
Entrez Gene 57190
PubMed articles SEPN1
OMIM - Gene 606210
OMIM - Diseases CFTD (myopathy, congenital, with fiber type disproportion (CFTD))
RSMD-1 (dystrophy, muscular, rigid spine, type 1 (RSMD-1, Eichsfeld))
GeneCards SEPN1
GeneTests SEPN1

Active transcripts




NCBI ID     

NCBI Protein ID     

00018666 1 transcript variant 1 NM_020451.2 NP_065184.2 475

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 © 2008-2020. 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.