Product Details

SNP ID

rs199518804

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:131462875 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGCAGGCAGTTTAGAATCTTTGA[C/T]CTGAGAGAAGGCAAAAATCTTAGTG

Phenotype

MIM: 607118

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MRPL3 PubMed Links

Gene Details

Gene

MRPL3

Gene Name

mitochondrial ribosomal protein L3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007208.3	1090	Missense Mutation	ATC,GTC	I299V	NP_009139.1

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