Product Details

SNP ID
rs113389014
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:23562266 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGATGTGATGCCATCTGTTAAGGGG[A/G]CCCAGGTAAGGCGGATTTCTTTGTG
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
There are no transcripts associated with this gene.

Gene
UBFD1
Gene Name
ubiquitin family domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019116.2 833 Missense Mutation ACC,GCC T209A NP_061989.2
XM_011545894.2 833 Missense Mutation ACC,GCC T209A XP_011544196.1
XM_017023459.1 833 Missense Mutation ACC,GCC T209A XP_016878948.1
XM_017023460.1 833 Missense Mutation ACC,GCC T209A XP_016878949.1

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