ABCC8 gene homepage

General information
Gene symbol ABCC8
Gene name ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Chromosome 11
Chromosomal band p15.1
Imprinted Unknown
Genomic reference NG_008867.1
Transcript reference NM_000352.3
Exon/intron information NM_000352.3 exon/intron table
Associated with diseases HHF1, NIDDM, Leucine-induced hypoglycemia, Transient neonatal diabetes mellitus 2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 1
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 03, 2013
Date last updated November 08, 2014
Version ABCC8:141108

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_000352.3.
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 https://www.LOVD.nl/ABCC8
HGNC 59
Entrez Gene 6833
PubMed articles ABCC8
OMIM - Gene 600509
OMIM - Diseases HHF1 (hypoglycemia, hyperinsulinemic, familial, type 1(HHF-1))
NIDDM (diabetes mellitus, noninsulin-dependent (NIDDM))
Leucine-induced hypoglycemia
Transient neonatal diabetes mellitus 2
HGMD ABCC8
GeneCards ABCC8
GeneTests ABCC8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001876 11 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352.3 NP_000343.2 1


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