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ATTCTTTTATAAGTTGTGCTAATAC[C/T]TGGAAGGCCTAAAACAGAAAAAAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611754 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AADAT 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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AADAT - aminoadipate aminotransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286682.1 | 1587 | Silent Mutation | CAA,CAG | Q,Q 419 | NP_001273611.1 | |
NM_001286683.1 | 1587 | Silent Mutation | CAA,CAG | Q,Q 415 | NP_001273612.1 | |
NM_016228.3 | 1587 | Silent Mutation | CAA,CAG | Q,Q 415 | NP_057312.1 | |
NM_182662.1 | 1587 | Silent Mutation | CAA,CAG | Q,Q 415 | NP_872603.1 | |
XM_006714231.2 | 1587 | Silent Mutation | CAA,CAG | Q,Q 454 | XP_006714294.1 | |
XM_011532020.2 | 1587 | Silent Mutation | CAA,CAG | Q,Q 300 | XP_011530322.1 |