Product Details

SNP ID

rs184440052

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:54758339 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCATGTTGGCTGAGAAGCTGCAGC[A/G]GGGACAGATGGCAAGCCGGTCCTCT

Phenotype

MIM: 612036

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PARS2 PubMed Links

Gene Details

Gene

PARS2

Gene Name

prolyl-tRNA synthetase 2, mitochondrial (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152268.3	945	Missense Mutation	CGC,TGC	R275C	NP_689481.2

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