Product Details

SNP ID

rs141879192

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:120396121 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTATTCTCTTATAGCCGATAATCTT[C/T]AGGTCTGAAAGAAAAAATCAACATA

Phenotype

MIM: 610200

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MRPL13 PubMed Links

Gene Details

Gene

MRPL13

Gene Name

mitochondrial ribosomal protein L13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014078.5	833	Missense Mutation	AAA,GAA	K174E	NP_054797.2

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