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TAAGGACTTGTGCTGCTAAGTTGAG[A/G]CCATTGACGGCTTCCCAGACTGTTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613022 | ||||||||||||||||||||
Literature Links: |
OGDH 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 |
OGDH - oxoglutarate dehydrogenase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001003941.2 | 127 | Silent Mutation | AGA,AGG | R,R 12 | NP_001003941.1 | |
NM_001165036.1 | 127 | Silent Mutation | AGA,AGG | R,R 12 | NP_001158508.1 | |
NM_002541.3 | 127 | Silent Mutation | AGA,AGG | R,R 12 | NP_002532.2 | |
XM_005249759.4 | 127 | Silent Mutation | AGA,AGG | R,R 12 | XP_005249816.1 | |
XM_005249761.3 | 127 | Silent Mutation | AGA,AGG | R,R 12 | XP_005249818.1 | |
XM_011515408.2 | 127 | Silent Mutation | AGA,AGG | R,R 12 | XP_011513710.1 |