Product Details
- SNP ID
-
rs201630170
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:119193231 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CATATCCTCCTGCAGGGCATGGCAC[C/T]GGCGACTCATCTCTGGGGTGGGGGC
- Phenotype
-
MIM: 611947
MIM: 607146
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CCDC153
PubMed Links
Gene Details
- Gene
- CCDC153
- Gene Name
- coiled-coil domain containing 153
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001145018.1 |
574 |
Missense Mutation |
CAG,CGG |
Q90R |
NP_001138490.1 |
| XM_006718818.3 |
574 |
Missense Mutation |
CAG,CGG |
Q62R |
XP_006718881.1 |
| XM_011542763.2 |
574 |
Missense Mutation |
CAG,CGG |
Q250R |
XP_011541065.1 |
| XM_011542764.2 |
574 |
Missense Mutation |
CAG,CGG |
Q250R |
XP_011541066.1 |
| XM_011542770.2 |
574 |
Missense Mutation |
CAG,CGG |
Q90R |
XP_011541072.1 |
| XM_011542771.2 |
574 |
Missense Mutation |
CAG,CGG |
Q82R |
XP_011541073.1 |
| XM_011542772.2 |
574 |
Missense Mutation |
CAG,CGG |
Q82R |
XP_011541074.1 |
| XM_011542774.2 |
574 |
Missense Mutation |
CAG,CGG |
Q152R |
XP_011541076.1 |
| XM_017017577.1 |
574 |
Missense Mutation |
CAG,CGG |
Q178R |
XP_016873066.1 |
| XM_017017578.1 |
574 |
Missense Mutation |
CAG,CGG |
Q125R |
XP_016873067.1 |
| XM_017017579.1 |
574 |
Missense Mutation |
CAG,CGG |
Q19R |
XP_016873068.1 |
| XM_017017580.1 |
574 |
Missense Mutation |
CAG,CGG |
Q90R |
XP_016873069.1 |
- Gene
- NLRX1
- Gene Name
- NLR family member X1
There are no transcripts associated with this gene.
- Gene
- PDZD3
- Gene Name
- PDZ domain containing 3
There are no transcripts associated with this gene.
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