Product Details
- SNP ID
-
rs34881418
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
32
- Location
-
Chr.1:46558636 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCCTGCCTGGGCCAGGGCCCGTCTC[C/T]GGGCCAGGCGTGACTTGCAGGGAGG
- Phenotype
-
MIM: 611455
MIM: 606724
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
KNCN
PubMed Links
Gene Details
- Gene
- KNCN
- Gene Name
- kinocilin
There are no transcripts associated with this gene.
- Gene
- MKNK1
- Gene Name
- MAP kinase interacting serine/threonine kinase 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001135553.2 |
1428 |
Missense Mutation |
CAG,CGG |
Q405R |
NP_001129025.1 |
| NM_003684.5 |
1428 |
Missense Mutation |
CAG,CGG |
Q446R |
NP_003675.2 |
| NM_198973.3 |
1428 |
UTR 3 |
|
|
NP_945324.1 |
| XM_006711000.1 |
1428 |
Missense Mutation |
CAG,CGG |
Q405R |
XP_006711063.1 |
| XM_006711001.2 |
1428 |
Missense Mutation |
CAG,CGG |
Q399R |
XP_006711064.1 |
| XM_006711002.2 |
1428 |
Missense Mutation |
CAG,CGG |
Q399R |
XP_006711065.1 |
| XM_006711003.1 |
1428 |
Missense Mutation |
CAG,CGG |
Q399R |
XP_006711066.1 |
| XM_006711006.3 |
1428 |
Missense Mutation |
CAG,CGG |
Q350R |
XP_006711069.1 |
| XM_006711007.1 |
1428 |
Missense Mutation |
CAG,CGG |
Q350R |
XP_006711070.1 |
| XM_006711009.3 |
1428 |
Missense Mutation |
CAG,CGG |
Q350R |
XP_006711072.1 |
| XM_006711013.1 |
1428 |
Missense Mutation |
CAG,CGG |
Q310R |
XP_006711076.1 |
| XM_006711014.1 |
1428 |
Missense Mutation |
CAG,CGG |
Q310R |
XP_006711077.1 |
| XM_006711015.1 |
1428 |
Missense Mutation |
CAG,CGG |
Q310R |
XP_006711078.1 |
| XM_017002652.1 |
1428 |
Missense Mutation |
CAG,CGG |
Q408R |
XP_016858141.1 |
| XM_017002653.1 |
1428 |
Missense Mutation |
CAG,CGG |
Q408R |
XP_016858142.1 |
| XM_017002654.1 |
1428 |
Missense Mutation |
CAG,CGG |
Q408R |
XP_016858143.1 |
| XM_017002655.1 |
1428 |
Missense Mutation |
CAG,CGG |
Q393R |
XP_016858144.1 |
| XM_017002656.1 |
1428 |
Missense Mutation |
CAG,CGG |
Q393R |
XP_016858145.1 |
| XM_017002657.1 |
1428 |
Missense Mutation |
CAG,CGG |
Q350R |
XP_016858146.1 |
| XM_017002658.1 |
1428 |
UTR 3 |
|
|
XP_016858147.1 |
| XM_017002659.1 |
1428 |
UTR 3 |
|
|
XP_016858148.1 |
| XM_017002660.1 |
1428 |
UTR 3 |
|
|
XP_016858149.1 |
| XM_017002661.1 |
1428 |
UTR 3 |
|
|
XP_016858150.1 |
| XM_017002662.1 |
1428 |
UTR 3 |
|
|
XP_016858151.1 |
| XM_017002663.1 |
1428 |
UTR 3 |
|
|
XP_016858152.1 |
| XM_017002664.1 |
1428 |
Missense Mutation |
CAG,CGG |
Q310R |
XP_016858153.1 |
| XM_017002665.1 |
1428 |
UTR 3 |
|
|
XP_016858154.1 |
| XM_017002666.1 |
1428 |
UTR 3 |
|
|
XP_016858155.1 |
| XM_017002667.1 |
1428 |
UTR 3 |
|
|
XP_016858156.1 |
| XM_017002668.1 |
1428 |
Intron |
|
|
XP_016858157.1 |
- Gene
- MKNK1-AS1
- Gene Name
- MKNK1 antisense RNA 1
There are no transcripts associated with this gene.
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