Product Details
- SNP ID
-
rs201375915
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
2
- Location
-
Chr.1:93183412 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATAATAAAGACAATGAAGAGGAAAG[G/T]TTGCTTGCAAATGTTGCTTCCTTAA
- Phenotype
-
MIM: 616876
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
CCDC18
PubMed Links
Gene Details
- Gene
- CCDC18
- Gene Name
- coiled-coil domain containing 18
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001306076.1 |
696 |
Missense Mutation |
AGG,AGT |
R17S |
NP_001293005.1 |
NM_206886.4 |
696 |
Missense Mutation |
AGG,AGT |
R17S |
NP_996769.3 |
XM_011541361.2 |
696 |
Missense Mutation |
AGG,AGT |
R135S |
XP_011539663.2 |
XM_011541372.2 |
696 |
Missense Mutation |
AGG,AGT |
R135S |
XP_011539674.2 |
XM_017001154.1 |
696 |
Missense Mutation |
AGG,AGT |
R135S |
XP_016856643.1 |
XM_017001155.1 |
696 |
Missense Mutation |
AGG,AGT |
R135S |
XP_016856644.1 |
XM_017001156.1 |
696 |
Missense Mutation |
AGG,AGT |
R125S |
XP_016856645.1 |
XM_017001157.1 |
696 |
Missense Mutation |
AGG,AGT |
R135S |
XP_016856646.1 |
XM_017001158.1 |
696 |
Missense Mutation |
AGG,AGT |
R135S |
XP_016856647.1 |
XM_017001159.1 |
696 |
Missense Mutation |
AGG,AGT |
R135S |
XP_016856648.1 |
XM_017001160.1 |
696 |
Missense Mutation |
AGG,AGT |
R135S |
XP_016856649.1 |
XM_017001161.1 |
696 |
Missense Mutation |
AGG,AGT |
R135S |
XP_016856650.1 |
XM_017001162.1 |
696 |
Missense Mutation |
AGG,AGT |
R17S |
XP_016856651.1 |
XM_017001163.1 |
696 |
Missense Mutation |
AGG,AGT |
R17S |
XP_016856652.1 |
XM_017001164.1 |
696 |
Missense Mutation |
AGG,AGT |
R17S |
XP_016856653.1 |
XM_017001165.1 |
696 |
Missense Mutation |
AGG,AGT |
R135S |
XP_016856654.1 |
XM_017001166.1 |
696 |
UTR 5 |
|
|
XP_016856655.1 |
XM_017001167.1 |
696 |
Intron |
|
|
XP_016856656.1 |
XM_017001168.1 |
696 |
Intron |
|
|
XP_016856657.1 |
XM_017001169.1 |
696 |
Missense Mutation |
AGG,AGT |
R135S |
XP_016856658.1 |
XM_017001170.1 |
696 |
Intron |
|
|
XP_016856659.1 |
XM_017001171.1 |
696 |
Intron |
|
|
XP_016856660.1 |
- Gene
- TMED5
- Gene Name
- transmembrane p24 trafficking protein 5
There are no transcripts associated with this gene.
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