Product Details

SNP ID
rs145291838
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:154925182 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTTCTCCAACTGCTCCTCCAGGC[A/G]CTGTTCAACTCCATGGTTCTCGATG
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_001323011.1 849 Missense Mutation CGC,TGC R162C NP_001309940.1
NM_001323012.1 849 Missense Mutation CGC,TGC R101C NP_001309941.1
NM_006556.3 849 Missense Mutation CGC,TGC R176C NP_006547.1

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