Product Details

SNP ID

rs138469286

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:197705814 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGTATCTCCTGCACAGATTTCATC[C/T]GCACCACGGAGGCCCGGCACCGGGT

Phenotype

MIM: 609728

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MARS2 PubMed Links

Gene Details

Gene

MARS2

Gene Name

methionyl-tRNA synthetase 2, mitochondrial

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138395.3	511	Missense Mutation	CGC,TGC	R137C	NP_612404.1

View Full Product Details