The 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, [Blood group, ABO system]
Citation reference(s)	-
Refseq URL	Genomic reference sequence
Curators (1)	Global Variome, with Curator vacancy
Total number of public variants reported	543
Unique public DNA variants reported	102
Individuals with public variants	1673
Hidden variants	-
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	June 26, 2020
Version	ABO:200626

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	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)) [Blood group, ABO system]
HGMD	ABO
GeneCards	ABO
GeneTests	ABO
Orphanet	ABO

Active transcripts

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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
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$	Text	Ser)$	all entries ending with 'Ser)'
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!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
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>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
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Example	Matches
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000472	9	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	NM_020469.2	NP_065202.2	543

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Global Variome shared LOVD

ABO (ABO blood group (transferase A, alpha 1-3-N-a...))