Product Details

SNP ID

rs199575981

Assay Type

Functionally tested

NCBI dbSNP Submissions

9

Location

Chr.1:220102412 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTGTTTTGGTCTCCGTCATCTA[C/G]GTATATATGCATTTTTCGGTAATTA

Phenotype

MIM: 612801

Polymorphism

C/G, Transversion 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	853	Missense Mutation	ACG,AGG	T250R	NP_060530.3

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