Product Details

SNP ID
hCV90571599
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:133255814 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGTGGCGCAGCAGGTACTTGTTC[C/A]GGTGGCTCTCGTCGTGCCACACGGC
Phenotype
MIM: 110300
Polymorphism
C/A, Transversion 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_020469.2 942 Missense Mutation CGG,CTG R306L NP_065202.2

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