Product Details

SNP ID

rs200668088

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:101402445 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCTGGTGTCCCTACCTTATTGCC[C/T]ATGGCAGTGTCCACCAGGAAGCCCA

Phenotype

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

RFX8 PubMed Links

Additional Information

For this assay, SNP(s) [rs2175968] 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

RFX8

Gene Name

RFX family member 8, lacking RFX DNA binding domain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145664.1	1365	Missense Mutation	ATA,ATG	I412M	NP_001139136.1
XM_011511771.2	1365	Missense Mutation	ATA,ATG	I488M	XP_011510073.1
XM_011511772.1	1365	Missense Mutation	ATA,ATG	I483M	XP_011510074.1
XM_011511773.1	1365	Missense Mutation	ATA,ATG	I382M	XP_011510075.1
XM_011511776.1	1365	Missense Mutation	ATA,ATG	I316M	XP_011510078.1
XM_011511777.1	1365	Missense Mutation	ATA,ATG	I316M	XP_011510079.1
XM_011511778.1	1365	Missense Mutation	ATA,ATG	I316M	XP_011510080.1
XM_017004851.1	1365	Missense Mutation	ATA,ATG	I525M	XP_016860340.1
XM_017004852.1	1365	Missense Mutation	ATA,ATG	I454M	XP_016860341.1
XM_017004853.1	1365	Intron			XP_016860342.1
XM_017004854.1	1365	Intron			XP_016860343.1

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