Product Details

SNP ID

rs1046863

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:154924787 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATCCACACTGGGGAGCTCTGGGTT[C/T]TTGCCCAGAACAAGGGGCTGAGAAC

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	1244	UTR 3			NP_001309940.1
NM_001323012.1	1244	UTR 3			NP_001309941.1
NM_006556.3	1244	UTR 3			NP_006547.1

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