View gene ABCB7

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_004299.3
Associated with diseases ASAT
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 17
Unique public DNA variants reported 9
Individuals with public variants 17
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created January 30, 2008
Date last updated October 24, 2015
Version ABCB7:151024

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
Homepage URL http://www.LOVD.nl/ABCB7
External URL Orphanet
HGNC 48
Entrez Gene 22
PubMed articles ABCB7
OMIM - Gene 300135
OMIM - Diseases ASAT (anemia sideroblastic, and spinocerebellar ataxia (ASAT))
HGMD ABCB7
GeneCards ABCB7
GeneTests ABCB7


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001390 X ATP-binding cassette, sub-family B (MDR/TAP), member 7 NM_004299.3 NP_004290.2 17


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