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GCCAATACAAATATACTGTGAGCAA[C/T]ATTGTGGGGAAGAGAAGAGTGGTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614365 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AASDH 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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AASDH - aminoadipate-semialdehyde dehydrogenase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286668.1 | 2802 | Missense Mutation | TAT,TGT | Y,C 846 | NP_001273597.1 | |
NM_001286669.1 | 2802 | Missense Mutation | TAT,TGT | Y,C 793 | NP_001273598.1 | |
NM_001286670.1 | 2802 | Missense Mutation | TAT,TGT | Y,C 461 | NP_001273599.1 | |
NM_001286671.1 | 2802 | Intron | NP_001273600.1 | |||
NM_001286672.1 | 2802 | Intron | NP_001273601.1 | |||
NM_001323890.1 | 2802 | Missense Mutation | TAT,TGT | Y,C 985 | NP_001310819.1 | |
NM_001323892.1 | 2802 | Missense Mutation | ATA,ATG | I,M 891 | NP_001310821.1 | |
NM_001323893.1 | 2802 | Missense Mutation | ATA,ATG | I,M 738 | NP_001310822.1 | |
NM_001323899.1 | 2802 | Missense Mutation | TAT,TGT | Y,C 569 | NP_001310828.1 | |
NM_181806.3 | 2802 | Missense Mutation | TAT,TGT | Y,C 946 | NP_861522.2 | |
XM_017007740.1 | 2802 | Intron | XP_016863229.1 | |||
XM_017007741.1 | 2802 | Missense Mutation | TAT,TGT | Y,C 793 | XP_016863230.1 | |
XM_017007742.1 | 2802 | Missense Mutation | TAT,TGT | Y,C 793 | XP_016863231.1 | |
XM_017007743.1 | 2802 | Intron | XP_016863232.1 | |||
XM_017007744.1 | 2802 | Missense Mutation | TAT,TGT | Y,C 524 | XP_016863233.1 |