Product Details

SNP ID

hCV89791340

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.1:207496275 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGATGTGCTTGGGGAGAATGGGGG[C/T]CTCTTCTCCAAGAAGCCCGGAGCCT

Phenotype

MIM: 120620 MIM: 120650

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	148	Missense Mutation	GCC,GTC	A3V	NP_000564.2
NM_000651.4	148	Missense Mutation	GCC,GTC	A3V	NP_000642.3

Gene

CR2

Gene Name

complement component 3d receptor 2

There are no transcripts associated with this gene.

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