Product Details

SNP ID

rs149353254

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:220102216 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGCAGATTGGAATAATTGCTACT[A/G]TACATTTGATGGGAAGTATGAAGCC

Phenotype

MIM: 612801

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IARS2 PubMed Links

Gene Details

Gene

IARS2

Gene Name

isoleucyl-tRNA synthetase 2, mitochondrial

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018060.3	742	Missense Mutation	TAT,TGT	Y213C	NP_060530.3

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