ABCA12 gene homepage

General information
Gene symbol ABCA12
Gene name ATP-binding cassette, sub-family A (ABC1), member 12
Chromosome 2
Chromosomal band q34
Imprinted Unknown
Genomic reference NG_007074.1
Transcript reference NM_173076.2
Exon/intron information NM_173076.2 exon/intron table
Associated with diseases ARCI-4A, ARCI-4B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 110
Unique public DNA variants reported 83
Individuals with public variants 78
Hidden variants 0
Date created May 03, 2013
Date last updated August 22, 2014
Version ABCA12:140822

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_173076.2.
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
HGNC 14637
Entrez Gene 26154
PubMed articles ABCA12
OMIM - Gene 607800
OMIM - Diseases ARCI-4A (ichthyosis, congenital, autosomal recessive, type 4A (ARCI-4A))
ARCI-4B (ichthyosis, congenital, autosomal recessive, type 4B (ARCI-4B, harlequin))

Active transcripts




NCBI ID     

NCBI Protein ID     

00001855 2 transcript variant 1 NM_173076.2 NP_775099.2 110

Copyright & disclaimer
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