ABCA5 gene homepage

General information
Gene symbol ABCA5
Gene name ATP binding cassette subfamily A member 5
Chromosome 17
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_034199.1
Transcript reference NM_018672.4, NM_172232.3
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 78
Unique public DNA variants reported 78
Individuals with public variants 106
Hidden variants 0
Date created November 26, 2015
Date last updated December 07, 2017
Version ABCA5:171207

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
Entrez Gene 23461
PubMed articles ABCA5
OMIM - Gene 612503
GeneCards ABCA5
GeneTests ABCA5

Active transcripts




NCBI ID     

NCBI Protein ID     

00067853 17 ATP-binding cassette, sub-family A (ABC1), member 5, transcript variant 1 NM_018672.4 NP_061142.2 78
00067854 17 ATP-binding cassette, sub-family A (ABC1), member 5, transcript variant 2 NM_172232.3 NP_758424.1 78

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2015-2022. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.