Product Details

SNP ID

rs151267286

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:154926405 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCGGCTCTGCTCCAACGCTACAA[C/T]GCGGACCGTCTGCGTCACGGCCCCA

Phenotype

MIM: 607622

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PMVK PubMed Links

Gene Details

Gene

PMVK

Gene Name

phosphomevalonate kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001323011.1	714	Missense Mutation			NP_001309940.1
NM_001323012.1	714	Missense Mutation			NP_001309941.1
NM_006556.3	714	Missense Mutation			NP_006547.1

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