Product Details
- SNP ID
-
rs143916090
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:119193163 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGGGGAAACCTACCTAGCTGCCCCC[A/G]AAGGCCTTTGACTTCTTCCTCCAGC
- Phenotype
-
MIM: 611947
MIM: 607146
- Polymorphism
- A/G, 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 |
642 |
Missense Mutation |
CGG,TGG |
R113W |
NP_001138490.1 |
XM_006718818.3 |
642 |
Missense Mutation |
CGG,TGG |
R85W |
XP_006718881.1 |
XM_011542763.2 |
642 |
Missense Mutation |
CGG,TGG |
R273W |
XP_011541065.1 |
XM_011542764.2 |
642 |
Missense Mutation |
CGG,TGG |
R273W |
XP_011541066.1 |
XM_011542770.2 |
642 |
Missense Mutation |
CGG,TGG |
R113W |
XP_011541072.1 |
XM_011542771.2 |
642 |
Missense Mutation |
CGG,TGG |
R105W |
XP_011541073.1 |
XM_011542772.2 |
642 |
Missense Mutation |
CGG,TGG |
R105W |
XP_011541074.1 |
XM_011542774.2 |
642 |
Missense Mutation |
CGG,TGG |
R175W |
XP_011541076.1 |
XM_017017577.1 |
642 |
Missense Mutation |
CGG,TGG |
R201W |
XP_016873066.1 |
XM_017017578.1 |
642 |
Missense Mutation |
CGG,TGG |
R148W |
XP_016873067.1 |
XM_017017579.1 |
642 |
Missense Mutation |
CGG,TGG |
R42W |
XP_016873068.1 |
XM_017017580.1 |
642 |
Missense Mutation |
CGG,TGG |
R113W |
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.
View Full Product Details