Product Details

SNP ID

rs142447047

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:57840966 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTCGTCTTAAAATGACACCTTCT[A/G]CCAATAAAGCCTTCCCTGTTTCCAC

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	442	Missense Mutation	GCA,GTA	A127V	NP_057154.2

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