Product Details

SNP ID
rs143777330
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:110642401 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTGCCTTTCTAGGAGCTGCTGCC[A/G]CCGGGCGTCCCCCGTGGCCTCGGGC
Phenotype
MIM: 612800 MIM: 615910
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CARS2 PubMed Links

Gene Details

Gene
CARS2
Gene Name
cysteinyl-tRNA synthetase 2, mitochondrial (putative)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024537.3 1352 Missense Mutation CGG,TGG R513W NP_078813.1
XM_006719953.2 1352 Missense Mutation CGG,TGG R400W XP_006720016.1
XM_011521116.1 1352 Missense Mutation CGG,TGG R398W XP_011519418.1
XM_011521117.2 1352 Intron XP_011519419.1
XM_011521118.2 1352 Intron XP_011519420.1
XM_017020741.1 1352 Missense Mutation CGG,TGG R400W XP_016876230.1
XM_017020742.1 1352 Intron XP_016876231.1
Gene
NAXD
Gene Name
NAD(P)HX dehydratase
There are no transcripts associated with this gene.

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