The ASCC1 gene homepage

General information
Gene symbol ASCC1
Gene name activating signal cointegrator 1 complex subunit 1
Chromosome 10
Chromosomal band q22.1
Imprinted Unknown
Genomic reference NG_031890.1
Transcript reference NM_001198799.2
Exon/intron information NM_001198799.2 exon/intron table
Associated with diseases Barrett's adenocar, SMABF, SMABF2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 13
Unique public DNA variants reported 10
Individuals with public variants 19
Hidden variants 4
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 03, 2013
Date last updated May 20, 2021
Version ASCC1:210520

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_001198799.2.
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/ASCC1
HGNC 24268
Entrez Gene 51008
PubMed articles ASCC1
OMIM - Gene 614215
OMIM - Diseases Barrett's adenocar (Barrett esophagus (adenocarcinoma, esophageal))
SMABF2 (atrophy, muscular, spinal, with congenital bone fractures, type 2 (SMABF2))
HGMD ASCC1
GeneCards ASCC1
GeneTests ASCC1
Orphanet ASCC1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025297 10 transcript variant 1 NM_001198799.2 NP_001185728.1 13


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