The ABCA8 gene homepage

General information
Gene symbol ABCA8
Gene name ATP-binding cassette, sub-family A (ABC1), member 8
Chromosome 17
Chromosomal band q24
Imprinted Unknown
Genomic reference NC_000017.10
Transcript reference NM_007168.2, XM_005256938.1, XM_005256940.2
Associated with diseases -
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 105
Unique public DNA variants reported 24
Individuals with public variants 35
Hidden variants 54
Date created November 30, -0001
Date last updated September 28, 2016
Version ABCA8:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:38
Entrez Gene 10351
PubMed articles ABCA8
OMIM - Gene 612505


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015453 17 Manually created transcript. (expired, new version available) NM_007168.2 - 105
00038850 17 transcript variant X3 XM_005256940.2 XP_005256997.1 -
00038851 17 transcript variant X1 XM_005256938.1 XP_005256995.1 -