The ABCB7 gene homepage

General information
Gene symbol ABCB7
Gene name ATP-binding cassette, sub-family B (MDR/TAP), member 7
Chromosome X
Chromosomal band q13.3
Imprinted Unknown
Genomic reference NG_007980.1
Transcript reference NM_001271696.1, NM_001271697.1, NM_001271698.1, NM_001271699.1, NM_004299.4
Associated with diseases ASAT
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 20
Unique public DNA variants reported 7
Individuals with public variants 15
Hidden variants 15
Date created November 30, -0001
Date last updated September 20, 2016
Version ABCB7:160920

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:48
Entrez Gene 22
PubMed articles ABCB7
OMIM - Gene 300135
OMIM - Diseases ASAT (anemia sideroblastic, and spinocerebellar ataxia (ASAT))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024727 X transcript variant 1 NM_004299.4 NP_004290.2 20
00031491 X Manually created transcript NM_001271696.1 - 20
00050361 X transcript variant 3 NM_001271697.1 NP_001258626.1 19
00050363 X transcript variant 5 NM_001271699.1 NP_001258628.1 19
00050360 X transcript variant 4 NM_001271698.1 NP_001258627.1 13