Product Details

SNP ID

rs118113570

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:57839806 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCAGGGAGGCAAGAGACCTTTCG[A/G]CTGGTCTGCAGGTGCCTCCAAATGC

Phenotype

MIM: 611985

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MRPS23 PubMed Links

Gene Details

Gene

MRPS23

Gene Name

mitochondrial ribosomal protein S23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016070.3	612	Missense Mutation	CCG,TCG	P184S	NP_057154.2

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