Product Details

SNP ID

rs11542613

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:93469312 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCTGTAGCTGCAGTAAAATGGGT[G/T]ATGTCAAAGAGAACTATCTTGAAAC

Phenotype

MIM: 611847

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MRPL42 PubMed Links

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	189	Silent Mutation	GTG,GTT	V9V	NP_054769.1
NM_172177.3	189	Silent Mutation	GTG,GTT	V9V	NP_751917.1

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