ABCA3 gene homepage

General information
Gene symbol ABCA3
Gene name ATP-binding cassette, sub-family A (ABC1), member 3
Chromosome 16
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_011790.1
Transcript reference NM_001089.2
Exon/intron information NM_001089.2 exon/intron table
Associated with diseases SMDP-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 30
Unique public DNA variants reported 25
Individuals with public variants 154
Hidden variants 1
Download all this gene's data Download all data
Date created May 03, 2013
Date last updated September 15, 2020
Version ABCA3:200915

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_001089.2.
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 21
PubMed articles ABCA3
OMIM - Gene 601615
OMIM - Diseases SMDP-3 (surfactant metabolism dysfunction, pulmonary, type 3 (SMDP-3))
GeneCards ABCA3
GeneTests ABCA3

Active transcripts




NCBI ID     

NCBI Protein ID     

00001846 16 ATP-binding cassette, sub-family A (ABC1), member 3 NM_001089.2 NP_001080.2 30

Copyright & disclaimer
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