Product Details

SNP ID

rs142989662

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:93479412 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAACGTAGAGCTTGCTCTGACTTC[C/T]GATGGCAGGACAATAGTATGCTACC

Phenotype

MIM: 611847

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

MRPL42 PubMed Links

Additional Information

For this assay, SNP(s) [rs200682206] 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

MRPL42

Gene Name

mitochondrial ribosomal protein L42

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014050.3	321	Silent Mutation	TCC,TCT	S53S	NP_054769.1
NM_172177.3	321	Silent Mutation	TCC,TCT	S53S	NP_751917.1

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