Product Details

SNP ID
rs139920420
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:3001226 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCCCTTTGCTGAGCTCTTTGCCC[A/T]CCATGTCATGTGTGGGCAGACCCTG
Phenotype
MIM: 123859 MIM: 601651
Polymorphism
A/T, Transversion 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 2250 Missense Mutation GAG,GTG E795V NP_001014437.1
NM_001194997.1 2250 Missense Mutation AGG,TGG R798W NP_001181926.1
NM_001751.5 2250 Missense Mutation GAG,GTG E712V NP_001742.1
NM_139273.3 2250 Missense Mutation AGG,TGG R715W NP_644802.1
XM_006718341.3 2250 Missense Mutation GAG,GTG E702V XP_006718404.1
XM_017018389.1 2250 Missense Mutation AGG,TGG R705W XP_016873878.1
XM_017018390.1 2250 Missense Mutation AGG,TGG R705W XP_016873879.1
XM_017018391.1 2250 Missense Mutation GAG,GTG E620V XP_016873880.1
XM_017018392.1 2250 Missense Mutation AGG,TGG R728W XP_016873881.1
Gene
NAP1L4
Gene Name
nucleosome assembly protein 1 like 4
There are no transcripts associated with this gene.

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