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GTTTAGCTTTACAGATACTGTGATA[C/T]GGATCAGAAACCGACACAATGATGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602524 | ||||||||||||||||||||
Literature Links: |
PDK1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
PDK1 - pyruvate dehydrogenase kinase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278549.1 | 612 | Silent Mutation | CGG,TGG | R,W 164 | NP_001265478.1 | |
NM_002610.4 | 612 | Silent Mutation | CGG,TGG | R,W 144 | NP_002601.1 | |
XM_006712594.2 | 612 | Silent Mutation | CGG,TGG | R,W 164 | XP_006712657.1 | |
XM_006712595.3 | 612 | Intron | XP_006712658.1 | |||
XM_011511343.2 | 612 | Silent Mutation | CGG,TGG | R,W 88 | XP_011509645.1 | |
XM_011511344.2 | 612 | Silent Mutation | CGG,TGG | R,W 88 | XP_011509646.1 | |
XM_011511345.2 | 612 | Silent Mutation | CGG,TGG | R,W 68 | XP_011509647.1 | |
XM_011511347.2 | 612 | Silent Mutation | CGG,TGG | R,W 88 | XP_011509649.1 |