Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATAAAAAATTTCTAGTTCTATTACC[C/T]GTTCTCCAAAGTGAGTAAAGCAGAG
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 |
---|---|---|
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 |
AASDH - aminoadipate-semialdehyde dehydrogenase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286668.1 | 2871 | Missense Mutation | CAG,CGG | Q,R 869 | NP_001273597.1 | |
NM_001286669.1 | 2871 | Missense Mutation | CAG,CGG | Q,R 816 | NP_001273598.1 | |
NM_001286670.1 | 2871 | Missense Mutation | CAG,CGG | Q,R 484 | NP_001273599.1 | |
NM_001286671.1 | 2871 | Intron | NP_001273600.1 | |||
NM_001286672.1 | 2871 | Intron | NP_001273601.1 | |||
NM_001323890.1 | 2871 | Missense Mutation | CAG,CGG | Q,R 1008 | NP_001310819.1 | |
NM_001323892.1 | 2871 | Silent Mutation | ACA,ACG | T,T 914 | NP_001310821.1 | |
NM_001323893.1 | 2871 | Silent Mutation | ACA,ACG | T,T 761 | NP_001310822.1 | |
NM_001323899.1 | 2871 | Missense Mutation | CAG,CGG | Q,R 592 | NP_001310828.1 | |
NM_181806.3 | 2871 | Missense Mutation | CAG,CGG | Q,R 969 | NP_861522.2 | |
XM_017007740.1 | 2871 | Intron | XP_016863229.1 | |||
XM_017007741.1 | 2871 | Missense Mutation | CAG,CGG | Q,R 816 | XP_016863230.1 | |
XM_017007742.1 | 2871 | Missense Mutation | CAG,CGG | Q,R 816 | XP_016863231.1 | |
XM_017007743.1 | 2871 | Intron | XP_016863232.1 | |||
XM_017007744.1 | 2871 | Missense Mutation | CAG,CGG | Q,R 547 | XP_016863233.1 |