Gene:
ABO
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)

PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

? = Mouse-over for quick help

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all variant annotations for ABO

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available CA VA
rs495828 NC_000009.11:g.136154867G=, NC_000009.11:g.136154867G>T, NC_000009.12:g.133279294T>G, NW_003315925.1:g.105388T=, NW_003315925.1:g.105388T>G, NW_009646201.1:g.105388T>G, rs60651416
G > T
SNP
No VIP available No Clinical Annotations available VA
rs8176740 NC_000009.11:g.136131472A>T, NC_000009.12:g.133256085A>T, NG_006669.1:g.21583T>A, NM_020469.2:c.646T>A, NP_065202.2:p.Phe216Ile, NW_009646201.1:g.82178A>T, XM_005276848.1:c.643T>A, XM_005276849.1:c.589T>A, XM_005276850.1:c.223T>A, XM_005276851.1:c.223T>A, XM_005276852.1:c.223T>A, XP_005276905.1:p.Phe215Ile, XP_005276906.1:p.Phe197Ile, XP_005276907.1:p.Phe75Ile, XP_005276908.1:p.Phe75Ile, XP_005276909.1:p.Phe75Ile
A > T
SNP
F216I
No VIP available No Clinical Annotations available VA
rs8176746 NC_000009.11:g.136131322G>T, NC_000009.12:g.133255935G>T, NG_006669.1:g.21733C>A, NM_020469.2:c.796C>A, NP_065202.2:p.Leu266Met, NW_009646201.1:g.82028G>T, XM_005276848.1:c.793C>A, XM_005276849.1:c.739C>A, XM_005276850.1:c.373C>A, XM_005276851.1:c.373C>A, XM_005276852.1:c.373C>A, XP_005276905.1:p.Leu265Met, XP_005276906.1:p.Leu247Met, XP_005276907.1:p.Leu125Met, XP_005276908.1:p.Leu125Met, XP_005276909.1:p.Leu125Met, rs386615834, rs52812928, rs58313875
G > T
SNP
L266M
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  None
Alternate Symbols:  A3GALNT; A3GALT1
PharmGKB Accession Id: PA24415

Details

Cytogenetic Location: chr9 : q34.2 - q34.2
GP mRNA Boundary: chr9 : 136130563 - 136150630
GP Gene Boundary: chr9 : 136127563 - 136160630
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
enalapril
Evidence Drug Class
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Ace Inhibitors, Plain

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Cough
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Hypertension

Publications related to ABO: 5

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Could personalized management of menopause based on genomics become a reality?. Pharmacogenomics. 2016. Moyer Ann M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Rs495828 polymorphism of the ABO gene is a predictor of enalapril-induced cough in Chinese patients with essential hypertension. Pharmacogenetics and genomics. 2014. Luo Jian-Quan, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacogenetic predictors of angiotensin-converting enzyme inhibitor-induced cough: the role of ACE, ABO, and BDKRB2 genes. Pharmacogenetics and genomics. 2011. Mas Sergi, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor. The pharmacogenomics journal. 2010. Chung C-M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Distribution of ABO and Rh blood groups in patients with HELLP syndrome. Archives of gynecology and obstetrics. 2002. Sezik M, et al. PubMed

LinkOuts

NCBI Gene:
28
OMIM:
110300
UCSC Genome Browser:
NM_020469
RefSeq RNA:
NM_020469
RefSeq Protein:
NP_065202
RefSeq DNA:
NG_006669
NT_035014
UniProtKB:
BGAT_HUMAN (P16442)
GenAtlas:
ABO
GeneCard:
ABO
MutDB:
ABO
ALFRED:
LO000384P
HuGE:
ABO
Comparative Toxicogenomics Database:
28
ModBase:
Q9NY01
HumanCyc Gene:
HS10887
HGNC:
79

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