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TTCTCCTGGGCCTTGCGCTCCTTCT[C/T]GGCAGCTGCTGCCATCTCCTTCAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602525 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PDK2 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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PDK2 - pyruvate dehydrogenase kinase 2 | ||||||
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There are no transcripts associated with this gene. |
SAMD14 - sterile alpha motif domain containing 14 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001257359.1 | 2488 | Missense Mutation | AAG,GAG | K,E 391 | NP_001244288.1 | |
NM_174920.3 | 2488 | Missense Mutation | AAG,GAG | K,E 419 | NP_777580.1 | |
XM_011524490.2 | 2488 | Missense Mutation | AAG,GAG | K,E 174 | XP_011522792.1 | |
XM_017024322.1 | 2488 | Missense Mutation | AAG,GAG | K,E 474 | XP_016879811.1 | |
XM_017024323.1 | 2488 | Missense Mutation | AAG,GAG | K,E 391 | XP_016879812.1 | |
XM_017024324.1 | 2488 | Missense Mutation | AAG,GAG | K,E 419 | XP_016879813.1 |