Product Details

SNP ID

rs142929868

Assay Type

Functionally Tested

NCBI dbSNP Submissions

8

Location

Chr.1:196951021 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGGTCCACTCCTCCCAAATGCAG[G/T]TCCACTAGTAAGTGCAATGTTGTTC

Phenotype

MIM: 600889

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

CFHR2 PubMed Links

Additional Information

For this assay, SNP(s) [rs4085749] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CFHR2

Gene Name

complement factor H related 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001312672.1	355	Intron			NP_001299601.1
NM_005666.3	355	Missense Mutation	AGG,AGT	R141S	NP_005657.1
XM_005245113.3	355	Missense Mutation	AGG,AGT	R76S	XP_005245170.1
XM_011509458.2	355	Intron			XP_011507760.1
XM_011509459.2	355	Missense Mutation	AGG,AGT	R121S	XP_011507761.1
XM_011509460.2	355	Intron			XP_011507762.1
XM_017001109.1	355	Intron			XP_016856598.1

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