The ABCB6 gene homepage

General information
Gene symbol ABCB6
Gene name ATP-binding cassette, sub-family B (MDR/TAP), member 6
Chromosome 2
Chromosomal band q36
Imprinted Unknown
Genomic reference NG_032110.1
Transcript reference NM_005689.2, NM_138802.2
Associated with diseases DUH-3, LAN, MCOPCB-7
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 272
Unique public DNA variants reported 25
Individuals with public variants 35
Hidden variants 4
Date created November 30, -0001
Date last updated September 28, 2016
Version ABCB6:160928

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:47
Entrez Gene 10058
PubMed articles ABCB6
OMIM - Gene 605452
OMIM - Diseases DUH-3 (dyschromatosis universalis hereditaria, type 3 (DUH-3))
LAN (blood group system, Langereis (LAN))
MCOPCB-7 (microphthalmia, isolated, with coloboma, type 7 (MCOPCB-7))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020636 2 ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689.2 NP_005680.1 240
00031594 2 Manually created transcript (removed from reference sequence) NM_138802.2 - 111