Product Details

SNP ID

rs74116247

Assay Type

Functionally tested

NCBI dbSNP Submissions

21

Location

Chr.1:154927060 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACAGCCAACCCAAGGGCAAATCCT[G/T]TTGGTTTTCTCTTCAAAATACACGC

Phenotype

MIM: 607622

Polymorphism

G/T, Transversion 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		Intron			NP_001309940.1
NM_001323012.1		Intron			NP_001309941.1
NM_006556.3		Intron			NP_006547.1

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