SMC1A gene homepage

General information
Gene symbol SMC1A
Gene name structural maintenance of chromosomes 1A
Chromosome X
Chromosomal band p11.22-p11.21
Imprinted Unknown
Genomic reference LRG_773
Transcript reference NM_006306.2
Exon/intron information NM_006306.2 exon/intron table
Associated with diseases CDLS-2, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Bert Redeker
Total number of public variants reported 95
Unique public DNA variants reported 76
Individuals with public variants 62
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment 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 10, 2009
Date last updated May 15, 2019
Version SMC1A:190515

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_006306.2.
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 https://www.LOVD.nl/SMC1A
External URL Orphanet
HGNC 11111
Entrez Gene 8243
PubMed articles SMC1A
OMIM - Gene 300040
OMIM - Diseases CDLS-2 (Cornelia de Lange syndrome, type 2 (CDLS-2))
HGMD SMC1A
GeneCards SMC1A
GeneTests SMC1A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001074 X structural maintenance of chromosomes 1A NM_006306.2 NP_006297.2 95


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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.