Product Details

SNP ID

rs139496338

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:73473422 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCTGACTACTGGGACATTTCTGA[C/G]AGGCATGATTGTAATTGGATTGGAG

Phenotype

MIM: 614667

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MTO1 PubMed Links

Gene Details

Gene

MTO1

Gene Name

mitochondrial tRNA translation optimization 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001123226.1	717	Missense Mutation	ACA,AGA	T198R	NP_001116698.1
NM_012123.3	717	Missense Mutation	ACA,AGA	T198R	NP_036255.2
NM_133645.2	717	Missense Mutation	ACA,AGA	T198R	NP_598400.1
XM_006715444.2	717	Missense Mutation	ACA,AGA	T124R	XP_006715507.1
XM_006715445.2	717	Missense Mutation	ACA,AGA	T124R	XP_006715508.1
XM_006715446.3	717	Missense Mutation	ACA,AGA	T198R	XP_006715509.1
XM_011535723.1	717	Missense Mutation	ACA,AGA	T61R	XP_011534025.1
XM_011535724.1	717	Missense Mutation	ACA,AGA	T61R	XP_011534026.1
XM_011535725.2	717	Missense Mutation	ACA,AGA	T61R	XP_011534027.1
XM_017010697.1	717	Missense Mutation	ACA,AGA	T124R	XP_016866186.1
XM_017010698.1	717	Missense Mutation	ACA,AGA	T61R	XP_016866187.1
XM_017010699.1	717	Intron			XP_016866188.1
XM_017010700.1	717	Intron			XP_016866189.1

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