Product Details

SNP ID

rs147388913

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:29610602 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGCCAGGCAAAGGAGGGAGCTGC[A/G]GCTCTTTGACATTAAACCAGAGCAG

Phenotype

MIM: 606114

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

POP4 PubMed Links

Gene Details

Gene

POP4

Gene Name

POP4 homolog, ribonuclease P/MRP subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006627.2	310	Missense Mutation	CAG,CGG	Q85R	NP_006618.1

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