Product Details

SNP ID

rs201916678

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:220102540 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTTGAATATAATCCTGAGCATGT[C/T]AGTCGTTCAATATATGTAAAATTTC

Phenotype

MIM: 612801

Polymorphism

C/T, 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	899	Silent Mutation	GTC,GTT	V265V	NP_060530.3

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