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Search Thermo Fisher Scientific
GGTTGTAGCGGCGGCTGCCGGCTGG[C/T]TACTCAGGCTCAGGGCGGCAGGGGC
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 |
---|---|---|
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 |
BCKDHB - branched chain keto acid dehydrogenase E1 subunit beta | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000056.4 | 115 | Silent Mutation | CTA,TTA | L,L 11 | NP_000047.1 | |
NM_001318975.1 | 115 | Intron | NP_001305904.1 | |||
NM_183050.3 | 115 | Silent Mutation | CTA,TTA | L,L 11 | NP_898871.1 | |
XM_005248756.4 | 115 | Silent Mutation | CTA,TTA | L,L 11 | XP_005248813.1 | |
XM_011536023.2 | 115 | Silent Mutation | CTA,TTA | L,L 11 | XP_011534325.1 | |
XM_011536024.2 | 115 | Silent Mutation | CTA,TTA | L,L 11 | XP_011534326.1 | |
XM_011536025.2 | 115 | Silent Mutation | CTA,TTA | L,L 11 | XP_011534327.1 | |
XM_011536026.2 | 115 | Intron | XP_011534328.1 |