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CTTGTGGGCGTCGCTGCAATAAACT[C/G]ACTAGCAGCTCCAGGCTGGAGTTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611695 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TTBK2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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TTBK2 - tau tubulin kinase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_173500.3 | 2257 | Missense Mutation | CAG,GAG | Q,E 646 | NP_775771.3 | |
XM_005254171.4 | 2257 | Missense Mutation | CAG,GAG | Q,E 652 | XP_005254228.1 | |
XM_005254173.4 | 2257 | Missense Mutation | CAG,GAG | Q,E 577 | XP_005254230.1 | |
XM_006720402.3 | 2257 | Missense Mutation | CAG,GAG | Q,E 641 | XP_006720465.1 | |
XM_006720403.3 | 2257 | Missense Mutation | CAG,GAG | Q,E 577 | XP_006720466.1 | |
XM_017021950.1 | 2257 | Missense Mutation | CAG,GAG | Q,E 553 | XP_016877439.1 |