The 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
Associated with diseases SMDP-3
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 204
Unique public DNA variants reported 34
Individuals with public variants 35
Hidden variants 7
Date created November 30, -0001
Date last updated September 28, 2016
Version ABCA3:160928

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:33
Entrez Gene 21
PubMed articles ABCA3
OMIM - Gene 601615
OMIM - Diseases SMDP-3 (surfactant metabolism dysfunction, pulmonary, type 3 (SMDP-3))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009780 16 ATP-binding cassette, sub-family A (ABC1), member 3 NM_001089.2 NP_001080.2 204