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TGTTAGCCAAGATGGCGGTAGCGAT[C/T]GCTGCAGCGAGGGTCTGGCGGCTAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608348 MIM: 606492 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BCKDHA 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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BCKDHA - branched chain keto acid dehydrogenase E1, alpha polypeptide | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000709.3 | 54 | Silent Mutation | ATC,ATT | I,I 5 | NP_000700.1 | |
NM_001164783.1 | 54 | Silent Mutation | ATC,ATT | I,I 5 | NP_001158255.1 |
EXOSC5 - exosome component 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020158.3 | 54 | Intron | NP_064543.3 |