Product Details

SNP ID

rs74604425

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:23526496 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTACAATCAAGAGCTTTGAGACAT[C/T]ACAAAAGGATCTAAAAAGAAACAGT

Phenotype

MIM: 612799

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EARS2 PubMed Links

Gene Details

Gene

EARS2

Gene Name

glutamyl-tRNA synthetase 2, mitochondrial

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001083614.1		Intron			NP_001077083.1
NM_001308211.1		Intron			NP_001295140.1
XM_011545738.1		Intron			XP_011544040.1
XM_011545739.1		Intron			XP_011544041.1

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