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CCTCGGCTTGACACAGAGCAGCTGG[C/T]GCAAAGGGGAGCTGGCCTCTGCTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 608439 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TLK2 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
|
TLK2 - tousled like kinase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284333.1 | 599 | Missense Mutation | GCG,GTG | A,V 165 | NP_001271262.1 | |
NM_001284363.1 | 599 | Intron | NP_001271292.1 | |||
NM_006852.3 | 599 | Missense Mutation | GCG,GTG | A,V 165 | NP_006843.2 | |
XM_011524215.2 | 599 | Missense Mutation | GCG,GTG | A,V 165 | XP_011522517.1 | |
XM_011524216.2 | 599 | Missense Mutation | GCG,GTG | A,V 165 | XP_011522518.1 | |
XM_011524217.2 | 599 | Missense Mutation | GCG,GTG | A,V 165 | XP_011522519.1 | |
XM_011524218.2 | 599 | Missense Mutation | GCG,GTG | A,V 165 | XP_011522520.1 | |
XM_011524220.2 | 599 | Missense Mutation | GCG,GTG | A,V 165 | XP_011522522.1 | |
XM_011524221.2 | 599 | Missense Mutation | GCG,GTG | A,V 133 | XP_011522523.1 | |
XM_011524222.2 | 599 | Missense Mutation | GCG,GTG | A,V 165 | XP_011522524.1 | |
XM_011524223.2 | 599 | Missense Mutation | GCG,GTG | A,V 133 | XP_011522525.1 | |
XM_011524224.2 | 599 | Missense Mutation | GCG,GTG | A,V 61 | XP_011522526.1 | |
XM_011524225.2 | 599 | Missense Mutation | GCG,GTG | A,V 61 | XP_011522527.1 | |
XM_011524226.2 | 599 | Missense Mutation | GCG,GTG | A,V 61 | XP_011522528.1 | |
XM_011524227.2 | 599 | Missense Mutation | GCG,GTG | A,V 61 | XP_011522529.1 | |
XM_011524228.2 | 599 | Missense Mutation | GCG,GTG | A,V 61 | XP_011522530.1 | |
XM_011524229.2 | 599 | Missense Mutation | GCG,GTG | A,V 16 | XP_011522531.1 | |
XM_011524231.1 | 599 | Missense Mutation | GCG,GTG | A,V 165 | XP_011522533.1 | |
XM_017024044.1 | 599 | Missense Mutation | GCG,GTG | A,V 165 | XP_016879533.1 | |
XM_017024045.1 | 599 | Missense Mutation | GCG,GTG | A,V 179 | XP_016879534.1 | |
XM_017024046.1 | 599 | Missense Mutation | GCG,GTG | A,V 165 | XP_016879535.1 | |
XM_017024047.1 | 599 | Missense Mutation | GCG,GTG | A,V 165 | XP_016879536.1 | |
XM_017024048.1 | 599 | Missense Mutation | GCG,GTG | A,V 133 | XP_016879537.1 | |
XM_017024049.1 | 599 | Missense Mutation | GCG,GTG | A,V 133 | XP_016879538.1 | |
XM_017024050.1 | 599 | Missense Mutation | GCG,GTG | A,V 179 | XP_016879539.1 | |
XM_017024051.1 | 599 | Missense Mutation | GCG,GTG | A,V 133 | XP_016879540.1 | |
XM_017024052.1 | 599 | Missense Mutation | GCG,GTG | A,V 133 | XP_016879541.1 | |
XM_017024053.1 | 599 | Missense Mutation | GCG,GTG | A,V 133 | XP_016879542.1 | |
XM_017024054.1 | 599 | Missense Mutation | GCG,GTG | A,V 165 | XP_016879543.1 | |
XM_017024055.1 | 599 | Missense Mutation | GCG,GTG | A,V 133 | XP_016879544.1 | |
XM_017024056.1 | 599 | Missense Mutation | GCG,GTG | A,V 61 | XP_016879545.1 | |
XM_017024057.1 | 599 | Missense Mutation | GCG,GTG | A,V 61 | XP_016879546.1 | |
XM_017024058.1 | 599 | Missense Mutation | GCG,GTG | A,V 16 | XP_016879547.1 | |
XM_017024059.1 | 599 | Missense Mutation | GCG,GTG | A,V 16 | XP_016879548.1 | |
XM_017024060.1 | 599 | Missense Mutation | GCG,GTG | A,V 16 | XP_016879549.1 |