Product Details
- SNP ID
-
rs17853141
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.22:31441851 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTCTGTACCAACCCTGGGTGAAGC[C/T]GGTGAGCAGGCCTAACCATAGGGAC
- Phenotype
-
MIM: 603952
MIM: 607445
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
DRG1
PubMed Links
Gene Details
- Gene
- DRG1
- Gene Name
- developmentally regulated GTP binding protein 1
There are no transcripts associated with this gene.
- Gene
- EIF4ENIF1
- Gene Name
- eukaryotic translation initiation factor 4E nuclear import factor 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001164501.1 |
2976 |
Missense Mutation |
CAG,CGG |
Q825R |
NP_001157973.1 |
| NM_001164502.1 |
2976 |
Missense Mutation |
CAG,CGG |
Q651R |
NP_001157974.1 |
| NM_019843.3 |
2976 |
Missense Mutation |
CAG,CGG |
Q825R |
NP_062817.2 |
| XM_005261686.2 |
2976 |
Missense Mutation |
CAG,CGG |
Q826R |
XP_005261743.1 |
| XM_005261687.2 |
2976 |
Missense Mutation |
CAG,CGG |
Q826R |
XP_005261744.1 |
| XM_005261688.2 |
2976 |
Missense Mutation |
CAG,CGG |
Q826R |
XP_005261745.1 |
| XM_006724281.3 |
2976 |
Missense Mutation |
CAG,CGG |
Q867R |
XP_006724344.3 |
| XM_011530280.1 |
2976 |
Missense Mutation |
CAG,CGG |
Q825R |
XP_011528582.1 |
| XM_011530281.2 |
2976 |
Missense Mutation |
CAG,CGG |
Q826R |
XP_011528583.1 |
| XM_017028863.1 |
2976 |
Missense Mutation |
CAG,CGG |
Q866R |
XP_016884352.1 |
| XM_017028864.1 |
2976 |
Missense Mutation |
CAG,CGG |
Q825R |
XP_016884353.1 |
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