Product Details

SNP ID

rs187175475

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:3006941 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGTTGTCCCGCAGGGCATCGCTG[A/T]GCTGCAGAATCTCAGGGACTGTAGG

Phenotype

MIM: 123859

Polymorphism

A/T, Transversion Substitution

Allele Nomenclature

Literature Links

CARS PubMed Links

Additional Information

For this assay, SNP(s) [rs729662] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1945	Missense Mutation	CAC,CTC	H696L	NP_001014437.1
NM_001194997.1	1945	Missense Mutation	CAC,CTC	H696L	NP_001181926.1
NM_001751.5	1945	Missense Mutation	CAC,CTC	H613L	NP_001742.1
NM_139273.3	1945	Missense Mutation	CAC,CTC	H613L	NP_644802.1
XM_006718341.3	1945	Missense Mutation	CAC,CTC	H603L	XP_006718404.1
XM_017018389.1	1945	Missense Mutation	CAC,CTC	H603L	XP_016873878.1
XM_017018390.1	1945	Missense Mutation	CAC,CTC	H603L	XP_016873879.1
XM_017018391.1	1945	Missense Mutation	CAC,CTC	H521L	XP_016873880.1
XM_017018392.1	1945	Missense Mutation	CAC,CTC	H626L	XP_016873881.1

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