The ABCB5 gene homepage

General information
Gene symbol ABCB5
Gene name ATP-binding cassette, sub-family B (MDR/TAP), member 5
Chromosome 7
Chromosomal band p14
Imprinted Unknown
Genomic reference NC_000007.13
Transcript reference NM_001163941.1, NM_001163942.1, NM_001163993.1, NM_178559.5, XM_005249737.1
Associated with diseases -
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 357
Unique public DNA variants reported 41
Individuals with public variants 35
Hidden variants 131
Date created October 28, 2013
Date last updated September 28, 2016
Version ABCB5:160928

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:46
Entrez Gene 340273
PubMed articles ABCB5
OMIM - Gene 611785
HGMD ABCB5
GeneCards ABCB5
GeneTests ABCB5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015457 7 Manually created transcript. (removed from reference sequence) NM_178559.5 - 328
00000024 7 transcript variant 1 NM_001163941.1 NP_001157413.1 327
00015455 7 Manually created transcript. NM_001163942.1 - 142
00015456 7 Manually created transcript. (removed from reference sequence) NM_001163993.1 - 135
00046337 7 transcript variant X1 XM_005249737.1 XP_005249794.1 -


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