The 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 CDLS2, EIEE85, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Bert Redeker
Total number of public variants reported 134
Unique public DNA variants reported 107
Individuals with public variants 70
Hidden variants 11
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 09, 2022
Version SMC1A:220509

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
HGNC 11111
Entrez Gene 8243
PubMed articles SMC1A
OMIM - Gene 300040
OMIM - Diseases CDLS2 (Cornelia de Lange syndrome, type 2 (CDLS-2))
EIEE85 (Epileptic encephalopathy, early infantile, 85, with or without midline brain defects)
GeneCards SMC1A
GeneTests SMC1A
Orphanet SMC1A

Active transcripts




NCBI ID     

NCBI Protein ID     

00001074 X structural maintenance of chromosomes 1A NM_006306.2 NP_006297.2 134

Copyright & disclaimer
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