Product Details
- SNP ID
-
rs7128850
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:93667736 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- GGAAGAATCACAAACTCAGAAAATA[A/C]AGAACTTGGAAAAACTGTATTTGGC
- Phenotype
-
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
CEP295
PubMed Links
Gene Details
- Gene
- CEP295
- Gene Name
- centrosomal protein 295
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_033395.1 |
353 |
Missense Mutation |
AAG,CAG |
K80Q |
NP_203753.1 |
| XM_005274366.1 |
353 |
Missense Mutation |
AAG,CAG |
K80Q |
XP_005274423.1 |
| XM_005274367.2 |
353 |
Missense Mutation |
AAG,CAG |
K80Q |
XP_005274424.1 |
| XM_005274368.2 |
353 |
Missense Mutation |
AAG,CAG |
K80Q |
XP_005274425.1 |
| XM_011543047.1 |
353 |
Missense Mutation |
AAG,CAG |
K80Q |
XP_011541349.1 |
| XM_011543048.1 |
353 |
Missense Mutation |
AAG,CAG |
K80Q |
XP_011541350.1 |
| XM_011543049.1 |
353 |
Missense Mutation |
AAG,CAG |
K80Q |
XP_011541351.1 |
| XM_011543050.2 |
353 |
Intron |
|
|
XP_011541352.1 |
| XM_011543053.2 |
353 |
Intron |
|
|
XP_011541355.1 |
| XM_011543054.2 |
353 |
Intron |
|
|
XP_011541356.1 |
| XM_017018470.1 |
353 |
Missense Mutation |
AAG,CAG |
K80Q |
XP_016873959.1 |
| XM_017018471.1 |
353 |
Missense Mutation |
AAG,CAG |
K80Q |
XP_016873960.1 |
| XM_017018472.1 |
353 |
Missense Mutation |
AAG,CAG |
K80Q |
XP_016873961.1 |
| XM_017018473.1 |
353 |
UTR 5 |
|
|
XP_016873962.1 |
| XM_017018474.1 |
353 |
Intron |
|
|
XP_016873963.1 |
| XM_017018475.1 |
353 |
UTR 5 |
|
|
XP_016873964.1 |
| XM_017018476.1 |
353 |
Intron |
|
|
XP_016873965.1 |
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