Product Details

SNP ID

rs201612591

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:196982916 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGTGATTTTCCAAAAATACACCA[A/T]GGATTTCTGTATGATGAAGAAGATT

Phenotype

MIM: 608593

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CFHR5 PubMed Links

Gene Details

Gene

CFHR5

Gene Name

complement factor H related 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030787.3	218	Missense Mutation	CAA,CAT	Q30H	NP_110414.1
XM_011510020.2	218	Missense Mutation	CAA,CAT	Q33H	XP_011508322.1

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