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TTATCACTAATGCCCAGCTGCTCCC[C/T]GGAGGTCTCTGTCTCTGTGGGCTCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610221 MIM: 605610 MIM: 616659 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AKT1S1 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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AKT1S1 - AKT1 substrate 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098632.2 | 732 | Missense Mutation | AGG,GGG | R,G 117 | NP_001092102.1 | |
NM_001098633.3 | 732 | Missense Mutation | AGG,GGG | R,G 117 | NP_001092103.1 | |
NM_001278159.1 | 732 | Missense Mutation | AGG,GGG | R,G 117 | NP_001265088.1 | |
NM_001278160.1 | 732 | Missense Mutation | AGG,GGG | R,G 117 | NP_001265089.1 | |
NM_032375.5 | 732 | Missense Mutation | AGG,GGG | R,G 137 | NP_115751.3 |
PNKP - polynucleotide kinase 3'-phosphatase | ||||||
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There are no transcripts associated with this gene. |
TBC1D17 - TBC1 domain family member 17 | ||||||
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There are no transcripts associated with this gene. |