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CACCATCCGTTCAATTGGTACAAAG[A/C]TGGTAAGATTCTCATCTTGTGTTTG
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 | |||
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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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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 | 518 | Silent Mutation | AGA,AGC | R,S 112 | NP_001265478.1 | |
NM_002610.4 | 518 | Silent Mutation | AGA,AGC | R,S 112 | NP_002601.1 | |
XM_006712594.2 | 518 | Silent Mutation | AGA,AGC | R,S 112 | XP_006712657.1 | |
XM_006712595.3 | 518 | UTR 5 | XP_006712658.1 | |||
XM_011511343.2 | 518 | Missense Mutation | AGA,AGC | R,S 36 | XP_011509645.1 | |
XM_011511344.2 | 518 | Missense Mutation | AGA,AGC | R,S 36 | XP_011509646.1 | |
XM_011511345.2 | 518 | Missense Mutation | AGA,AGC | R,S 36 | XP_011509647.1 | |
XM_011511347.2 | 518 | Missense Mutation | AGA,AGC | R,S 36 | XP_011509649.1 |