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TTCTTGGCCTCCTGCTCTCGGCGCC[A/G]GAGCTTCTCCCGCTGCCGCGCAGCC
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 |
---|---|---|
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 |
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 | 2539 | Missense Mutation | CGG,TGG | R,W 408 | NP_001244288.1 | |
NM_174920.3 | 2539 | Missense Mutation | CGG,TGG | R,W 436 | NP_777580.1 | |
XM_011524490.2 | 2539 | Missense Mutation | CGG,TGG | R,W 191 | XP_011522792.1 | |
XM_017024322.1 | 2539 | Missense Mutation | CGG,TGG | R,W 491 | XP_016879811.1 | |
XM_017024323.1 | 2539 | Missense Mutation | CGG,TGG | R,W 408 | XP_016879812.1 | |
XM_017024324.1 | 2539 | Missense Mutation | CGG,TGG | R,W 436 | XP_016879813.1 |