Product Details

SNP ID

rs200598823

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100707161 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCACCGTGGAGCTTGTTGATGAG[C/G]TGGAGCCAGAGACCGACACACGGGA

Phenotype

MIM: 606113

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

POP7 PubMed Links

Gene Details

Gene

POP7

Gene Name

POP7 homolog, ribonuclease P/MRP subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005837.2	593	Missense Mutation	CTG,GTG	L111V	NP_005828.2

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