ABCA1 gene homepage

General information
Gene symbol ABCA1
Gene name ATP-binding cassette, sub-family A (ABC1), member 1
Chromosome 9
Chromosomal band q31
Imprinted Unknown
Genomic reference NC_000009.11
Transcript reference NM_005502.3
Exon/intron information NM_005502.3 exon/intron table
Associated with diseases FH, HDLCD-2, TGD
Citation reference(s) -
Refseq URL Coding DNA reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 185
Unique public DNA variants reported 60
Individuals with public variants 176
Hidden variants 101
Date created June 04, 2012
Date last updated June 14, 2017
Version ABCA1:170614

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_005502.3.
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
Entrez Gene 19
PubMed articles ABCA1
OMIM - Gene 600046
OMIM - Diseases FH (hypercholesterolemia, familial (FH))
HDLCD-2 (hypoalphalipoproteinemia (HDL deficiency, type 2 (HDLCD-2)))
TGD (Tangier disease (TGD))
GeneCards ABCA1
GeneTests ABCA1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000207 9 ATP-binding cassette, sub-family A (ABC1), member 1 NM_005502.3 NP_005493.2 185

Copyright & disclaimer
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