Product Details

SNP ID

rs184061405

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:196779898 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAGTTGCCTGCCATCCTGGCTAC[A/G]GTCTTCCAAAAGCGCAGACCACAGT

Phenotype

MIM: 605336

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CFHR3 PubMed Links

Gene Details

Gene

CFHR3

Gene Name

complement factor H related 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166624.1	442	Missense Mutation	AGT,GGT	S119G	NP_001160096.1
NM_021023.5	442	Missense Mutation	AGT,GGT	S119G	NP_066303.2

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