Product Details

SNP ID

rs200219405

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.18:61816070 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGTTCAGCAGGGATGGTCACCA[C/T]GGTGACGGACTTCTGCTGGCTCCCG

Phenotype

MIM: 616512

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

RNF152 PubMed Links

Additional Information

For this assay, SNP(s) [rs4362478] 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

RNF152

Gene Name

ring finger protein 152

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173557.2	1007	Missense Mutation	ATG,GTG	M132V	NP_775828.1
XM_005266650.3	1007	Missense Mutation	ATG,GTG	M132V	XP_005266707.1
XM_005266652.3	1007	Missense Mutation	ATG,GTG	M132V	XP_005266709.1
XM_011525878.2	1007	Missense Mutation	ATG,GTG	M132V	XP_011524180.1
XM_011525879.2	1007	Missense Mutation	ATG,GTG	M132V	XP_011524181.1
XM_017025612.1	1007	Missense Mutation	ATG,GTG	M132V	XP_016881101.1
XM_017025613.1	1007	Missense Mutation	ATG,GTG	M132V	XP_016881102.1

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