Product Details

SNP ID
hCV89800715
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.1:207505916 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTGATCTCCAGGTCAATGCAATG[C/T]CCCAGAATGGCTTCCATTTGCCAGG
Phenotype
MIM: 120620
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CR1 PubMed Links

Gene Details

Gene
CR1
Gene Name
complement component 3b/4b receptor 1 (Knops blood group)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000573.3 274 Missense Mutation GCC,GTC A45V NP_000564.2
NM_000651.4 274 Missense Mutation GCC,GTC A45V NP_000642.3

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