SMC3 gene homepage

General information
Gene symbol SMC3
Gene name structural maintenance of chromosomes 3
Chromosome 10
Chromosomal band q25
Imprinted Unknown
Genomic reference NG_012217.1
Transcript reference NM_005445.3
Exon/intron information NM_005445.3 exon/intron table
Associated with diseases CDLS-3, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 48
Unique public DNA variants reported 42
Individuals with public variants 2
Hidden variants 7
Download all this gene's data Download all data
Notes ├Ęstablishment of this gene variant database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created September 04, 2009
Date last updated December 04, 2019
Version SMC3:191204

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_005445.3.
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 2468
Entrez Gene 9126
PubMed articles SMC3
OMIM - Gene 606062
OMIM - Diseases CDLS-3 (Cornelia de Lange syndrome, type 3 (CDLS-3))
GeneCards SMC3
GeneTests SMC3

Active transcripts




NCBI ID     

NCBI Protein ID     

00019433 10 structural maintenance of chromosomes 3 NM_005445.3 NP_005436.1 48

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 © 2009-2020. 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.