Product Details

SNP ID

hCV89800748

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.1:207506789 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCAAAGGCATCCAGTTCGGATCCC[A/G]AATTAAATATTCTTGTACTAAAGGG

Phenotype

MIM: 120620

Polymorphism

A/G, 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	517	Missense Mutation	CAA,CGA	Q126R	NP_000564.2
NM_000651.4	517	Missense Mutation	CAA,CGA	Q126R	NP_000642.3

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