Product Details

SNP ID
rs200135115
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:45394601 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTGCCACGGGAAAGTGGACAAAA[A/G]AGTATACATTGCAGACAAGAAAGGA
Phenotype
MIM: 604544
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LARS2 PubMed Links

Gene Details

Gene
LARS2
Gene Name
leucyl-tRNA synthetase 2, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015340.3 333 Missense Mutation AAG,GAG K50E NP_056155.1
XM_005265006.1 333 Missense Mutation AAG,GAG K50E XP_005265063.1
XM_011533554.2 333 Missense Mutation AAG,GAG K50E XP_011531856.1
XM_017006042.1 333 Missense Mutation AAG,GAG K50E XP_016861531.1

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