Product Details
- SNP ID
-
rs148696226
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:109483877 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTTTTCTAGGAGAGAGATTGATGAC[C/T]TTTTTAAAGCAGATGACCCTGAGTC
- Phenotype
-
MIM: 613421
MIM: 608047
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
KCTD10
PubMed Links
Gene Details
- Gene
- KCTD10
- Gene Name
- potassium channel tetramerization domain containing 10
There are no transcripts associated with this gene.
- Gene
- UBE3B
- Gene Name
- ubiquitin protein ligase E3B
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001270449.1 |
447 |
Missense Mutation |
CTT,TTT |
L60F |
NP_001257378.1 |
| NM_001270450.1 |
447 |
Missense Mutation |
CTT,TTT |
L60F |
NP_001257379.1 |
| NM_001270451.1 |
447 |
Missense Mutation |
CTT,TTT |
L60F |
NP_001257380.1 |
| NM_130466.3 |
447 |
Missense Mutation |
CTT,TTT |
L60F |
NP_569733.2 |
| NM_183415.2 |
447 |
Missense Mutation |
CTT,TTT |
L60F |
NP_904324.1 |
| XM_005253987.2 |
447 |
Missense Mutation |
CTT,TTT |
L60F |
XP_005254044.1 |
| XM_006719681.3 |
447 |
Missense Mutation |
CTT,TTT |
L60F |
XP_006719744.1 |
| XM_006719682.2 |
447 |
Missense Mutation |
CTT,TTT |
L60F |
XP_006719745.1 |
| XM_011538959.2 |
447 |
Missense Mutation |
CTT,TTT |
L60F |
XP_011537261.1 |
| XM_011538961.1 |
447 |
Missense Mutation |
CTT,TTT |
L60F |
XP_011537263.1 |
| XM_017020195.1 |
447 |
UTR 5 |
|
|
XP_016875684.1 |
| XM_017020196.1 |
447 |
Missense Mutation |
CTT,TTT |
L60F |
XP_016875685.1 |
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