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Gene : ABO Homo sapiens

Name  ? ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase Cytological Location  9q34.2
Brief Description  ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
Description  This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Sep 2019]
  • synonyms:
  • AF134415,
  • NAGAT,
  • HGNC:79,
  • GTB,
  • NM_020469,
  • A3GALNT,
  • OTTHUMG00000020872,
  • ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase),
  • A3GALT1,
  • uc064wua.1,
  • A3GALT1,
  • ABO,
  • A3GALNT
  • identifiers:
  • 28,
  • ENSG00000175164,
  • ABO

Genome feature

Region: gene ? Length: 24801  
Location: 9:133250401-133275201 reverse strand Cyto location: 9q34.2


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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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3753 SN Ps

5 Cross References

16 Data Sets

11 Homologues

0 Located Features

97 Rna Seq Results