The ABCA9 gene homepage

General information
Gene symbol ABCA9
Gene name ATP-binding cassette, sub-family A (ABC1), member 9
Chromosome 17
Chromosomal band q24
Imprinted Unknown
Genomic reference NC_000017.10
Transcript reference NM_080283.3, XM_005256934.1, XM_005256935.1, XM_005256936.1, XM_005256937.1
Associated with diseases -
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 213
Unique public DNA variants reported 30
Individuals with public variants 35
Hidden variants 78
Date created January 21, 2014
Date last updated September 28, 2016
Version ABCA9:160928

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:39
Entrez Gene 10350
PubMed articles ABCA9
OMIM - Gene 612507
HGMD ABCA9
GeneCards ABCA9
GeneTests ABCA9


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009549 17 ATP-binding cassette, sub-family A (ABC1), member 9 NM_080283.3 NP_525022.2 213
00038852 17 transcript variant X1 XM_005256934.1 XP_005256991.1 -
00038853 17 transcript variant X3 XM_005256936.1 XP_005256993.1 -
00038854 17 transcript variant X4 XM_005256937.1 XP_005256994.1 -
00038855 17 transcript variant X2 XM_005256935.1 XP_005256992.1 -


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