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TGAATAGGACCTGGATCCTCTTGCC[C/T]GCTATTAGGCATAACTTGTCCAATA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608459 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CDKL3 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
CDKL3 - cyclin dependent kinase like 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001113575.1 | 833 | Missense Mutation | AGG,GGG | R,G 478 | NP_001107047.1 | |
NM_001300853.1 | 833 | Missense Mutation | AGG,GGG | R,G 289 | NP_001287782.1 | |
NM_016508.3 | 833 | Intron | NP_057592.2 | |||
XM_011543429.2 | 833 | Missense Mutation | AGG,GGG | R,G 490 | XP_011541731.1 | |
XM_011543439.2 | 833 | Missense Mutation | AGG,GGG | R,G 289 | XP_011541741.1 | |
XM_011543444.2 | 833 | Missense Mutation | AGG,GGG | R,G 183 | XP_011541746.1 | |
XM_011543445.2 | 833 | Missense Mutation | AGG,GGG | R,G 183 | XP_011541747.1 | |
XM_011543447.2 | 833 | Missense Mutation | AGG,GGG | R,G 183 | XP_011541749.1 | |
XM_017009524.1 | 833 | Missense Mutation | AGG,GGG | R,G 505 | XP_016865013.1 | |
XM_017009525.1 | 833 | Missense Mutation | AGG,GGG | R,G 505 | XP_016865014.1 | |
XM_017009526.1 | 833 | Missense Mutation | AGG,GGG | R,G 505 | XP_016865015.1 | |
XM_017009527.1 | 833 | Missense Mutation | AGG,GGG | R,G 493 | XP_016865016.1 | |
XM_017009528.1 | 833 | Missense Mutation | AGG,GGG | R,G 490 | XP_016865017.1 | |
XM_017009529.1 | 833 | Missense Mutation | AGG,GGG | R,G 505 | XP_016865018.1 | |
XM_017009530.1 | 833 | Missense Mutation | AGG,GGG | R,G 505 | XP_016865019.1 | |
XM_017009531.1 | 833 | Missense Mutation | AGG,GGG | R,G 505 | XP_016865020.1 | |
XM_017009532.1 | 833 | Missense Mutation | AGG,GGG | R,G 478 | XP_016865021.1 | |
XM_017009533.1 | 833 | Missense Mutation | AGG,GGG | R,G 490 | XP_016865022.1 | |
XM_017009534.1 | 833 | Missense Mutation | AGG,GGG | R,G 490 | XP_016865023.1 | |
XM_017009535.1 | 833 | Missense Mutation | AGG,GGG | R,G 478 | XP_016865024.1 | |
XM_017009536.1 | 833 | Missense Mutation | AGG,GGG | R,G 409 | XP_016865025.1 | |
XM_017009537.1 | 833 | Missense Mutation | AGG,GGG | R,G 352 | XP_016865026.1 | |
XM_017009538.1 | 833 | Missense Mutation | AGG,GGG | R,G 304 | XP_016865027.1 | |
XM_017009539.1 | 833 | Missense Mutation | AGG,GGG | R,G 304 | XP_016865028.1 | |
XM_017009540.1 | 833 | Missense Mutation | AGG,GGG | R,G 304 | XP_016865029.1 | |
XM_017009541.1 | 833 | Missense Mutation | AGG,GGG | R,G 304 | XP_016865030.1 | |
XM_017009542.1 | 833 | Missense Mutation | AGG,GGG | R,G 304 | XP_016865031.1 | |
XM_017009543.1 | 833 | Missense Mutation | AGG,GGG | R,G 304 | XP_016865032.1 | |
XM_017009544.1 | 833 | Missense Mutation | AGG,GGG | R,G 183 | XP_016865033.1 | |
XM_017009545.1 | 833 | Missense Mutation | AGG,GGG | R,G 183 | XP_016865034.1 | |
XM_017009546.1 | 833 | Missense Mutation | AGG,GGG | R,G 183 | XP_016865035.1 | |
XM_017009547.1 | 833 | Missense Mutation | AGG,GGG | R,G 183 | XP_016865036.1 | |
XM_017009548.1 | 833 | Intron | XP_016865037.1 |