Product Details

SNP ID: hCV90571596
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:133255760 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCAGCCCAGCAGCTGCTGGTCCCAC[C/A]AGTACTCGGGGGAGAGCACCTTGGT
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	996	Missense Mutation	TGG,TTG	W324L	NP_065202.2