Product Details
- SNP ID
-
rs200190622
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
5
- Location
-
Chr.1:100990475 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TATGGAAAACAGACTTAGCATCTCC[A/C]TCTCCATTGGATGTATGCTGCCTCC
- Phenotype
-
MIM: 611075
MIM: 611149
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
DPH5
PubMed Links
Gene Details
- Gene
- DPH5
- Gene Name
- diphthamide biosynthesis 5
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001077394.1 |
956 |
Missense Mutation |
AGG,ATG |
R264M |
NP_001070862.1 |
NM_001077395.1 |
956 |
Missense Mutation |
AGG,ATG |
R263M |
NP_001070863.1 |
NM_015958.2 |
956 |
Missense Mutation |
AGG,ATG |
R264M |
NP_057042.2 |
XM_005270938.1 |
956 |
Missense Mutation |
GAG,GAT |
E229D |
XP_005270995.1 |
XM_005270939.4 |
956 |
Missense Mutation |
AGG,ATG |
R151M |
XP_005270996.1 |
XM_005270941.3 |
956 |
Missense Mutation |
AGG,ATG |
R143M |
XP_005270998.1 |
XM_006710683.3 |
956 |
Missense Mutation |
AGG,ATG |
R143M |
XP_006710746.1 |
XM_011541569.1 |
956 |
Missense Mutation |
GAG,GAT |
E228D |
XP_011539871.1 |
XM_011541570.2 |
956 |
Missense Mutation |
AGG,ATG |
R151M |
XP_011539872.1 |
XM_017001460.1 |
956 |
Missense Mutation |
AGG,ATG |
R264M |
XP_016856949.1 |
XM_017001461.1 |
956 |
Missense Mutation |
AGG,ATG |
R151M |
XP_016856950.1 |
XM_017001462.1 |
956 |
Missense Mutation |
AGG,ATG |
R142M |
XP_016856951.1 |
- Gene
- SLC30A7
- Gene Name
- solute carrier family 30 member 7
View Full Product Details