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TTCTCCCCATTCGTGTAGAAGCTGT[A/G]ATATCATGAGCTAAAAGAGATAAAA
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 |
---|---|---|
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 |
AADAT - aminoadipate aminotransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286682.1 | 1253 | Missense Mutation | TCA,TTA | S,L 308 | NP_001273611.1 | |
NM_001286683.1 | 1253 | Missense Mutation | TCA,TTA | S,L 304 | NP_001273612.1 | |
NM_016228.3 | 1253 | Missense Mutation | TCA,TTA | S,L 304 | NP_057312.1 | |
NM_182662.1 | 1253 | Missense Mutation | TCA,TTA | S,L 304 | NP_872603.1 | |
XM_006714231.2 | 1253 | Missense Mutation | TCA,TTA | S,L 343 | XP_006714294.1 | |
XM_011532020.2 | 1253 | Missense Mutation | TCA,TTA | S,L 189 | XP_011530322.1 |