Product Details

SNP ID
rs142862521
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:3006933 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGGGCAGGATGTTGTCCCGCAGGG[C/T]ATCGCTGAGCTGCAGAATCTCAGGG
Phenotype
MIM: 123859
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CARS PubMed Links

Gene Details

Gene
CARS
Gene Name
cysteinyl-tRNA synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001014437.2 1953 Missense Mutation ACC,GCC T699A NP_001014437.1
NM_001194997.1 1953 Missense Mutation ACC,GCC T699A NP_001181926.1
NM_001751.5 1953 Missense Mutation ACC,GCC T616A NP_001742.1
NM_139273.3 1953 Missense Mutation ACC,GCC T616A NP_644802.1
XM_006718341.3 1953 Missense Mutation ACC,GCC T606A XP_006718404.1
XM_017018389.1 1953 Missense Mutation ACC,GCC T606A XP_016873878.1
XM_017018390.1 1953 Missense Mutation ACC,GCC T606A XP_016873879.1
XM_017018391.1 1953 Missense Mutation ACC,GCC T524A XP_016873880.1
XM_017018392.1 1953 Missense Mutation ACC,GCC T629A XP_016873881.1

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