Product Details

SNP ID

rs141262402

Assay Type

Functionally Tested

NCBI dbSNP Submissions

4

Location

Chr.1:154926424 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTACAACGCGGACCGTCTGCGTCAC[A/G]GCCCCATAGGCCTCCCGAAACCACT

Phenotype

MIM: 607622

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

PMVK PubMed Links

Additional Information

For this assay, SNP(s) [rs16836525] 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

PMVK

Gene Name

phosphomevalonate kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001323011.1	695	Silent Mutation	GCC,GCT	A110A	NP_001309940.1
NM_001323012.1	695	Silent Mutation	GCC,GCT	A49A	NP_001309941.1
NM_006556.3	695	Silent Mutation	GCC,GCT	A124A	NP_006547.1

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