Product Details
- SNP ID
-
rs147900154
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:7934501 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATTCCTGGCGCTGGCTCAGAGAGAC[A/G]GGAAGAGGACTCCTTTGACAGTGAT
- Phenotype
-
MIM: 611425
MIM: 604111
MIM: 610969
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CNTROB
PubMed Links
Gene Details
- Gene
- CNTROB
- Gene Name
- centrobin, centriole duplication and spindle assembly protein
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001037144.5 |
1227 |
Missense Mutation |
CAG,CGG |
Q131R |
NP_001032221.1 |
| NM_053051.3 |
1227 |
Missense Mutation |
CAG,CGG |
Q131R |
NP_444279.2 |
| XM_005256437.2 |
1227 |
Missense Mutation |
CAG,CGG |
Q131R |
XP_005256494.1 |
| XM_005256438.2 |
1227 |
Missense Mutation |
CAG,CGG |
Q131R |
XP_005256495.1 |
| XM_005256439.2 |
1227 |
Missense Mutation |
CAG,CGG |
Q131R |
XP_005256496.1 |
| XM_017024128.1 |
1227 |
Missense Mutation |
CAG,CGG |
Q131R |
XP_016879617.1 |
| XM_017024129.1 |
1227 |
Missense Mutation |
CAG,CGG |
Q131R |
XP_016879618.1 |
| XM_017024130.1 |
1227 |
Missense Mutation |
CAG,CGG |
Q131R |
XP_016879619.1 |
| XM_017024131.1 |
1227 |
Missense Mutation |
CAG,CGG |
Q131R |
XP_016879620.1 |
| XM_017024132.1 |
1227 |
Missense Mutation |
CAG,CGG |
Q131R |
XP_016879621.1 |
| XM_017024133.1 |
1227 |
Missense Mutation |
CAG,CGG |
Q131R |
XP_016879622.1 |
| XM_017024134.1 |
1227 |
Missense Mutation |
CAG,CGG |
Q131R |
XP_016879623.1 |
| XM_017024135.1 |
1227 |
Missense Mutation |
CAG,CGG |
Q42R |
XP_016879624.1 |
| XM_017024136.1 |
1227 |
Missense Mutation |
CAG,CGG |
Q42R |
XP_016879625.1 |
| XM_017024137.1 |
1227 |
Missense Mutation |
CAG,CGG |
Q42R |
XP_016879626.1 |
| XM_017024138.1 |
1227 |
Intron |
|
|
XP_016879627.1 |
| XM_017024139.1 |
1227 |
UTR 5 |
|
|
XP_016879628.1 |
| XM_017024140.1 |
1227 |
UTR 5 |
|
|
XP_016879629.1 |
| XM_017024141.1 |
1227 |
Missense Mutation |
CAG,CGG |
Q131R |
XP_016879630.1 |
| XM_017024142.1 |
1227 |
UTR 5 |
|
|
XP_016879631.1 |
| XM_017024143.1 |
1227 |
UTR 5 |
|
|
XP_016879632.1 |
| XM_017024144.1 |
1227 |
UTR 5 |
|
|
XP_016879633.1 |
- Gene
- KCNAB3
- Gene Name
- potassium voltage-gated channel subfamily A regulatory beta subunit 3
There are no transcripts associated with this gene.
- Gene
- TRAPPC1
- Gene Name
- trafficking protein particle complex 1
There are no transcripts associated with this gene.
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