ABCA1 gene homepage

General information
Gene symbol ABCA1
Gene name ATP binding cassette subfamily A member 1
Chromosome 9
Chromosomal band q31
Imprinted Unknown
Genomic reference NG_007981.1
Transcript reference NM_005502.3, XM_005251773.1, XM_005251776.1, XM_011518339.1, XM_011518340.1, XM_011518341.1, XM_011518342.1, XM_011518343.1, XM_011518344.1
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 157
Unique public DNA variants reported 155
Individuals with public variants 106
Hidden variants 0
Date created November 25, 2015
Date last updated December 07, 2017
Version ABCA1:171207

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
HGNC 29
Entrez Gene 19
PubMed articles ABCA1
OMIM - Gene 600046
HGMD ABCA1
GeneCards ABCA1
GeneTests ABCA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00040082 9 ATP-binding cassette, sub-family A (ABC1), member 1 NM_005502.3 NP_005493.2 157
00040083 9 ATP-binding cassette, sub-family A (ABC1), member 1, transcript variant X4 XM_005251773.1 XP_005251830.1 157
00040084 9 ATP-binding cassette, sub-family A (ABC1), member 1, transcript variant X5 XM_005251776.1 XP_005251833.1 157
00040085 9 ATP-binding cassette, sub-family A (ABC1), member 1, transcript variant X1 XM_011518339.1 XP_011516641.1 157
00040086 9 ATP-binding cassette, sub-family A (ABC1), member 1, transcript variant X2 XM_011518340.1 XP_011516642.1 157
00040087 9 ATP-binding cassette, sub-family A (ABC1), member 1, transcript variant X3 XM_011518341.1 XP_011516643.1 157
00040088 9 ATP-binding cassette, sub-family A (ABC1), member 1, transcript variant X6 XM_011518342.1 XP_011516644.1 157
00040089 9 ATP-binding cassette, sub-family A (ABC1), member 1, transcript variant X7 XM_011518343.1 XP_011516645.1 157
00040090 9 ATP-binding cassette, sub-family A (ABC1), member 1, transcript variant X8 XM_011518344.1 XP_011516646.1 124


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