Product Details

SNP ID

rs140249853

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:154926598 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGTGGCTCTACCCCCCCATCATC[A/G]TGAGCATGTCAGCAGCTAGACTCAC

Phenotype

MIM: 607622

Polymorphism

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

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