ESCO2 gene homepage

General information
Gene symbol ESCO2
Gene name establishment of cohesion 1 homolog 2 (S. cerevisiae)
Chromosome 8
Chromosomal band p21.1
Imprinted Unknown
Genomic reference NG_008117.1
Transcript reference NM_001017420.2
Exon/intron information NM_001017420.2 exon/intron table
Associated with diseases ID, RBS, SC phocomelia syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Birgitt Schuele
Total number of public variants reported 64
Unique public DNA variants reported 38
Individuals with public variants 45
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 30, 2008
Date last updated October 21, 2018
Version ESCO2:181021

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_001017420.2.
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/ESCO2
External URL Orphanet
HGNC 27230
Entrez Gene 157570
PubMed articles ESCO2
OMIM - Gene 609353
OMIM - Diseases RBS (syndrome, Roberts (RBS))
SC phocomelia syndrome
HGMD ESCO2
GeneCards ESCO2
GeneTests ESCO2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007242 8 establishment of cohesion 1 homolog 2 (S. cerevisiae) NM_001017420.2 NP_001017420.1 64


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