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CTAGCTAGTGGGGTGAATAGAGTCC[A/C]TACCCTGTTGGAAGTCAGGAAGCCC
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)
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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 | Intron | NP_000700.1 | ||||
NM_001164783.1 | Intron | NP_001158255.1 |
EXOSC5 - exosome component 5 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |