Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTCCTTCCACAGTTACAAGATGAT[C/T]TGTCTTCATGACACTGGCTTCTATG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 179060 MIM: 611450 | ||||||||||||||||||||
Literature Links: |
PDHB 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 |
PDHB - pyruvate dehydrogenase (lipoamide) beta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000925.3 | 848 | Missense Mutation | AAT,GAT | N,D 287 | NP_000916.2 | |
NM_001173468.1 | 848 | Missense Mutation | AAT,GAT | N,D 269 | NP_001166939.1 | |
NM_001315536.1 | 848 | Missense Mutation | AAT,GAT | N,D 269 | NP_001302465.1 |
PXK - PX domain containing serine/threonine kinase like | ||||||
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There are no transcripts associated with this gene. |