Product Details

SNP ID
rs201108917
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:23558241 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACGTGAAGTTCCCCCTGGACAGCA[C/G]AGGCTCCGAGCTGAAACAGAAGATC
Phenotype
MIM: 612799
Polymorphism
C/G, Transversion 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_001083614.1 525 Intron NP_001077083.1
NM_001308211.1 525 Intron NP_001295140.1
XM_011545738.1 525 Intron XP_011544040.1
XM_011545739.1 525 Intron XP_011544041.1
Gene
UBFD1
Gene Name
ubiquitin family domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019116.2 525 Missense Mutation ACA,AGA T106R NP_061989.2
XM_011545894.2 525 Missense Mutation ACA,AGA T106R XP_011544196.1
XM_017023459.1 525 Missense Mutation ACA,AGA T106R XP_016878948.1
XM_017023460.1 525 Missense Mutation ACA,AGA T106R XP_016878949.1

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