Product Details

SNP ID

rs200994359

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:79919116 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACGTAAGTTCAAGATCTAATAGC[C/T]GCAACCGGACCCTGGTTCCTTTCTG

Phenotype

MIM: 611990

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MRPS28 PubMed Links

Gene Details

Gene

MRPS28

Gene Name

mitochondrial ribosomal protein S28

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014018.2	451	Missense Mutation	CAG,CGG	Q143R	NP_054737.1

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