The 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, CDLS3, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 69
Unique public DNA variants reported 62
Individuals with public variants 24
Hidden variants 9
Download all this gene's data Download all data
Notes èstablishment 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 February 26, 2024
Version SMC3:240226

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 http://www.LOVD.nl/SMC3
HGNC 2468
Entrez Gene 9126
PubMed articles SMC3
OMIM - Gene 606062
OMIM - Diseases CDLS3 (Cornelia de Lange syndrome, type 3 (CDLS-3))
HGMD SMC3
GeneCards SMC3
GeneTests SMC3
Orphanet SMC3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00019433 10 structural maintenance of chromosomes 3 NM_005445.3 NP_005436.1 69


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