Product Details

SNP ID
rs147853472
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:23522681 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCACTCCCCTGGACAAAATAAAT[A/G]TATTGTCTACTGCTGAAACGCAAAT
Phenotype
MIM: 612799
Polymorphism
A/G, 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 3294 UTR 3 NP_001077083.1
NM_001308211.1 3294 Intron NP_001295140.1
XM_011545738.1 3294 UTR 3 XP_011544040.1
XM_011545739.1 3294 UTR 3 XP_011544041.1

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