Product Details

SNP ID

rs143980023

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:10256784 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTGGCCGCAGAAAGGCACTGGGC[A/G]GGCCCGGCATGGCAGCATCCGCTCT

Phenotype

MIM: 611823

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MRPL4 PubMed Links

Gene Details

Gene

MRPL4

Gene Name

mitochondrial ribosomal protein L4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015956.2	558	Missense Mutation	CAG,CGG	Q135R	NP_057040.2
NM_146387.1	558	Missense Mutation	CAG,CGG	Q135R	NP_666499.1
NM_146388.1	558	Missense Mutation	CAG,CGG	Q135R	NP_666500.1
XM_011528045.2	558	Missense Mutation	CAG,CGG	Q135R	XP_011526347.1

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