Product Details

SNP ID

rs142498288

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:98123477 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAAACCTTTCCAAGCTCAAAAAC[A/G]AGGTAAAATACACATAAGAGACCAG

Phenotype

MIM: 602486 MIM: 602487

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

POP1 PubMed Links

Gene Details

Gene

POP1

Gene Name

POP1 homolog, ribonuclease P/MRP subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145860.1	168	Missense Mutation	CAA,CGA	Q47R	NP_001139332.1
NM_001145861.1	168	Missense Mutation	CAA,CGA	Q47R	NP_001139333.1
NM_015029.2	168	Missense Mutation	CAA,CGA	Q47R	NP_055844.2
XM_011516801.2	168	Missense Mutation	CAA,CGA	Q47R	XP_011515103.1

Gene

RIDA

Gene Name

reactive intermediate imine deaminase A homolog

There are no transcripts associated with this gene.

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