Product Details

SNP ID
hCV90571595
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:133255750 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGACGGCGGGCCAGCCCAGCAGCTG[T/C]TGGTCCCACAAGTACTCGGGGGAGA
Phenotype
MIM: 110300
Polymorphism
T/C, Transition substitution
Allele Nomenclature
Literature Links
ABO PubMed Links

Gene Details

Gene
ABO
Gene Name
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020469.2 1006 Silent Mutation CAA,CAG Q327Q NP_065202.2

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