Product Details

SNP ID
rs183076680
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:70252877 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCTGACACCTGCTGCACCCACTC[A/G]CTGGCTTTTAAGCCCCGATTGGCTG
Phenotype
MIM: 601065 MIM: 606490
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AARS PubMed Links

Gene Details

Gene
AARS
Gene Name
alanyl-tRNA synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001605.2 2861 Silent Mutation AGC,AGT S917S NP_001596.2
Gene
EXOSC6
Gene Name
exosome component 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_058219.2 2861 Intron NP_478126.1
Gene
LOC107984138
Gene Name
serine/threonine-protein kinase SMG1-like
There are no transcripts associated with this gene.

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