ABO gene homepage

NOTE: for ABO allele designations see the Blood Group Antigen Gene Mutation Database
General information
Gene symbol ABO
Gene name ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
Chromosome 9
Chromosomal band q34.2
Imprinted Not imprinted
Genomic reference NG_006669.1
Transcript reference NM_020469.2
Exon/intron information NM_020469.2 exon/intron table
Associated with diseases blood group ABO
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 537
Unique public DNA variants reported 99
Individuals with public variants 1309
Hidden variants 0
Download all this gene's data Download all data
Notes for ABO allele designations see the Blood Group Antigen Gene Mutation Database
Date created April 29, 2010
Date last updated March 09, 2019
Version ABO:190309

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_020469.2.
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
Homepage URL http://www.LOVD.nl/ABO
External URL Orphanet
Blood Group Antigen Mutation Database
HGNC 79
Entrez Gene 28
PubMed articles ABO
OMIM - Gene 110300
OMIM - Diseases blood group ABO (blood group system, ABO (type A, B or O))
HGMD ABO
GeneCards ABO
GeneTests ABO


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000472 9 ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) NM_020469.2 NP_065202.2 537


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