Product Details

SNP ID
rs143717155
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:54758004 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTACAGCTGCCCTATGAGCTCGGA[A/G]GCCGCCTGCTCCTTACTGCCCTTCT
Phenotype
MIM: 612036
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PARS2 PubMed Links

Gene Details

Gene
PARS2
Gene Name
prolyl-tRNA synthetase 2, mitochondrial (putative)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152268.3 1280 Silent Mutation GCC,GCT A386A NP_689481.2

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