Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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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 | 3053 | Missense Mutation | NP_001273597.1 | |||
NM_001286669.1 | 3053 | Missense Mutation | NP_001273598.1 | |||
NM_001286670.1 | 3053 | Missense Mutation | NP_001273599.1 | |||
NM_001286671.1 | 3053 | UTR 3 | NP_001273600.1 | |||
NM_001286672.1 | 3053 | Intron | NP_001273601.1 | |||
NM_001323890.1 | 3053 | Missense Mutation | NP_001310819.1 | |||
NM_001323892.1 | 3053 | UTR 3 | NP_001310821.1 | |||
NM_001323893.1 | 3053 | UTR 3 | NP_001310822.1 | |||
NM_001323899.1 | 3053 | Missense Mutation | NP_001310828.1 | |||
NM_181806.3 | 3053 | Missense Mutation | NP_861522.2 | |||
XM_017007740.1 | 3053 | Missense Mutation | XP_016863229.1 | |||
XM_017007741.1 | 3053 | Missense Mutation | XP_016863230.1 | |||
XM_017007742.1 | 3053 | Missense Mutation | XP_016863231.1 | |||
XM_017007743.1 | 3053 | UTR 3 | XP_016863232.1 | |||
XM_017007744.1 | 3053 | Missense Mutation | XP_016863233.1 |
KIAA1211 - KIAA1211 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |