Product Details
- SNP ID
-
rs183375471
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:134308615 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTACTTAGCAGTGTATTGGTATAAA[C/T]TGTTTTTCTTTCATCTTTCCTGAGT
- Phenotype
-
MIM: 608459
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CDKL3
PubMed Links
Gene Details
- Gene
- CDKL3
- Gene Name
- cyclin dependent kinase like 3
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001113575.1 |
395 |
Missense Mutation |
ATT,GTT |
I332V |
NP_001107047.1 |
NM_001300853.1 |
395 |
Missense Mutation |
ATT,GTT |
I143V |
NP_001287782.1 |
NM_016508.3 |
395 |
Missense Mutation |
ATT,GTT |
I332V |
NP_057592.2 |
XM_011543429.2 |
395 |
Missense Mutation |
ATT,GTT |
I344V |
XP_011541731.1 |
XM_011543439.2 |
395 |
Missense Mutation |
ATT,GTT |
I143V |
XP_011541741.1 |
XM_011543444.2 |
395 |
Missense Mutation |
ATT,GTT |
I37V |
XP_011541746.1 |
XM_011543445.2 |
395 |
Missense Mutation |
ATT,GTT |
I37V |
XP_011541747.1 |
XM_011543447.2 |
395 |
Missense Mutation |
ATT,GTT |
I37V |
XP_011541749.1 |
XM_017009524.1 |
395 |
Missense Mutation |
ATT,GTT |
I359V |
XP_016865013.1 |
XM_017009525.1 |
395 |
Missense Mutation |
ATT,GTT |
I359V |
XP_016865014.1 |
XM_017009526.1 |
395 |
Missense Mutation |
ATT,GTT |
I359V |
XP_016865015.1 |
XM_017009527.1 |
395 |
Missense Mutation |
ATT,GTT |
I347V |
XP_016865016.1 |
XM_017009528.1 |
395 |
Missense Mutation |
ATT,GTT |
I344V |
XP_016865017.1 |
XM_017009529.1 |
395 |
Missense Mutation |
ATT,GTT |
I359V |
XP_016865018.1 |
XM_017009530.1 |
395 |
Missense Mutation |
ATT,GTT |
I359V |
XP_016865019.1 |
XM_017009531.1 |
395 |
Missense Mutation |
ATT,GTT |
I359V |
XP_016865020.1 |
XM_017009532.1 |
395 |
Missense Mutation |
ATT,GTT |
I332V |
XP_016865021.1 |
XM_017009533.1 |
395 |
Missense Mutation |
ATT,GTT |
I344V |
XP_016865022.1 |
XM_017009534.1 |
395 |
Missense Mutation |
ATT,GTT |
I344V |
XP_016865023.1 |
XM_017009535.1 |
395 |
Missense Mutation |
ATT,GTT |
I332V |
XP_016865024.1 |
XM_017009536.1 |
395 |
Intron |
|
|
XP_016865025.1 |
XM_017009537.1 |
395 |
Missense Mutation |
ATT,GTT |
I206V |
XP_016865026.1 |
XM_017009538.1 |
395 |
Missense Mutation |
ATT,GTT |
I158V |
XP_016865027.1 |
XM_017009539.1 |
395 |
Missense Mutation |
ATT,GTT |
I158V |
XP_016865028.1 |
XM_017009540.1 |
395 |
Missense Mutation |
ATT,GTT |
I158V |
XP_016865029.1 |
XM_017009541.1 |
395 |
Missense Mutation |
ATT,GTT |
I158V |
XP_016865030.1 |
XM_017009542.1 |
395 |
Missense Mutation |
ATT,GTT |
I158V |
XP_016865031.1 |
XM_017009543.1 |
395 |
Missense Mutation |
ATT,GTT |
I158V |
XP_016865032.1 |
XM_017009544.1 |
395 |
Missense Mutation |
ATT,GTT |
I37V |
XP_016865033.1 |
XM_017009545.1 |
395 |
Missense Mutation |
ATT,GTT |
I37V |
XP_016865034.1 |
XM_017009546.1 |
395 |
Missense Mutation |
ATT,GTT |
I37V |
XP_016865035.1 |
XM_017009547.1 |
395 |
Missense Mutation |
ATT,GTT |
I37V |
XP_016865036.1 |
XM_017009548.1 |
395 |
Intron |
|
|
XP_016865037.1 |
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