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CAGATCTAGTAGCATAAAAGCTGGG[C/T]TTTCTAAATAGGATTTCCACAAATT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
21 submissions
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Phenotype: |
MIM: 248610 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DBT 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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DBT - dihydrolipoamide branched chain transacylase E2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001918.3 | 1678 | Missense Mutation | AAC,AGC | N,S 473 | NP_001909.3 | |
XM_005270545.3 | 1678 | Missense Mutation | AAC,AGC | N,S 292 | XP_005270602.1 | |
XM_017000468.1 | 1678 | Missense Mutation | AAC,AGC | N,S 292 | XP_016855957.1 | |
XM_017000469.1 | 1678 | Missense Mutation | AAC,AGC | N,S 292 | XP_016855958.1 |