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 |
View Full Product Details