Product Details

SNP ID

rs201434706

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.22:32193019 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGATTGCGCCTGATTTTGTTCTTCC[A/G]AGAGACCATGGAAGAGCAACAGCAA

Phenotype

MIM: 605969

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

RFPL2 PubMed Links

Additional Information

For this assay, SNP(s) [rs136478] are located under a primer 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

RFPL2

Gene Name

ret finger protein like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098527.2	1489	Missense Mutation	CGG,TGG	R147W	NP_001091997.2
NM_001159545.1	1489	Missense Mutation	CGG,TGG	R57W	NP_001153017.1
NM_001159546.1	1489	Intron			NP_001153018.1
NM_006605.3	1489	Intron			NP_006596.2
XM_011529826.1	1489	Missense Mutation	CGG,TGG	R185W	XP_011528128.1
XM_011529827.2	1489	Missense Mutation	CGG,TGG	R185W	XP_011528129.1
XM_011529828.1	1489	Missense Mutation	CGG,TGG	R185W	XP_011528130.1
XM_011529830.2	1489	Missense Mutation	CGG,TGG	R185W	XP_011528132.1
XM_011529832.1	1489	Missense Mutation	CGG,TGG	R147W	XP_011528134.1
XM_017028535.1	1489	Missense Mutation	CGG,TGG	R57W	XP_016884024.1
XM_017028536.1	1489	Missense Mutation	CGG,TGG	R57W	XP_016884025.1

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