Product Details
- SNP ID
-
rs200701949
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:119186617 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTGGACCCAGGCACCTCTGCCCAGC[C/G]CCAGGGTCTTCAGGAAGGAGACAGG
- Phenotype
-
MIM: 611947
MIM: 607146
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
CCDC153
PubMed Links
Gene Details
- Gene
- CCDC153
- Gene Name
- coiled-coil domain containing 153
There are no transcripts associated with this gene.
- Gene
- NLRX1
- Gene Name
- NLR family member X1
There are no transcripts associated with this gene.
- Gene
- PDZD3
- Gene Name
- PDZ domain containing 3
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001168468.1 |
295 |
Missense Mutation |
CCC,CGC |
P86R |
NP_001161940.1 |
| NM_024791.3 |
295 |
Missense Mutation |
CCC,CGC |
P86R |
NP_079067.3 |
| XM_011543000.2 |
295 |
Missense Mutation |
CCC,CGC |
P152R |
XP_011541302.1 |
| XM_011543001.2 |
295 |
Missense Mutation |
CCC,CGC |
P152R |
XP_011541303.1 |
| XM_011543002.2 |
295 |
Missense Mutation |
CCC,CGC |
P152R |
XP_011541304.1 |
| XM_011543005.2 |
295 |
Missense Mutation |
CCC,CGC |
P87R |
XP_011541307.1 |
| XM_017018334.1 |
295 |
Missense Mutation |
CCC,CGC |
P152R |
XP_016873823.1 |
| XM_017018335.1 |
295 |
Missense Mutation |
CCC,CGC |
P152R |
XP_016873824.1 |
| XM_017018336.1 |
295 |
Missense Mutation |
CCC,CGC |
P152R |
XP_016873825.1 |
| XM_017018337.1 |
295 |
Missense Mutation |
CCC,CGC |
P152R |
XP_016873826.1 |
View Full Product Details