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TGGTGAGCGGGGATGGCGGTTGTAG[C/T]GGCGGCTGCCGGCTGGCTACTCAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 248611 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BCKDHB 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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BCKDHB - branched chain keto acid dehydrogenase E1 subunit beta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000056.4 | 98 | Missense Mutation | GCG,GTG | A,V 5 | NP_000047.1 | |
NM_001318975.1 | 98 | Intron | NP_001305904.1 | |||
NM_183050.3 | 98 | Missense Mutation | GCG,GTG | A,V 5 | NP_898871.1 | |
XM_005248756.4 | 98 | Missense Mutation | GCG,GTG | A,V 5 | XP_005248813.1 | |
XM_011536023.2 | 98 | Missense Mutation | GCG,GTG | A,V 5 | XP_011534325.1 | |
XM_011536024.2 | 98 | Missense Mutation | GCG,GTG | A,V 5 | XP_011534326.1 | |
XM_011536025.2 | 98 | Missense Mutation | GCG,GTG | A,V 5 | XP_011534327.1 | |
XM_011536026.2 | 98 | Intron | XP_011534328.1 |