Product Details
- SNP ID
-
rs61735883
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:6017933 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCAGGGTCCTGTCCACGGTGCACAC[G/T]CACTCCTCGGTCAAGAGCGTGCCTG
- Phenotype
-
MIM: 600859
MIM: 613635
MIM: 600259
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
AIMP2
PubMed Links
Gene Details
- Gene
- AIMP2
- Gene Name
- aminoacyl tRNA synthetase complex interacting multifunctional protein 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001326606.1 |
455 |
Silent Mutation |
ACG,ACT |
T114T |
NP_001313535.1 |
| NM_001326607.1 |
455 |
Silent Mutation |
ACG,ACT |
T85T |
NP_001313536.1 |
| NM_001326609.1 |
455 |
Silent Mutation |
ACG,ACT |
T76T |
NP_001313538.1 |
| NM_001326611.1 |
455 |
Silent Mutation |
ACG,ACT |
T76T |
NP_001313540.1 |
| NM_006303.3 |
455 |
Silent Mutation |
ACG,ACT |
T154T |
NP_006294.2 |
| XM_005249847.3 |
455 |
Silent Mutation |
ACG,ACT |
T147T |
XP_005249904.1 |
| XM_005249848.2 |
455 |
Silent Mutation |
ACG,ACT |
T114T |
XP_005249905.1 |
| XM_005249850.3 |
455 |
Silent Mutation |
ACG,ACT |
T76T |
XP_005249907.1 |
| XM_006715772.2 |
455 |
Silent Mutation |
ACG,ACT |
T110T |
XP_006715835.1 |
| XM_011515519.1 |
455 |
Silent Mutation |
ACG,ACT |
T125T |
XP_011513821.1 |
- Gene
- EIF2AK1
- Gene Name
- eukaryotic translation initiation factor 2 alpha kinase 1
There are no transcripts associated with this gene.
- Gene
- PMS2
- Gene Name
- PMS1 homolog 2, mismatch repair system component
There are no transcripts associated with this gene.
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