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ACAGCATTGCACAGTCGTCCAGATA[A/T]GCTCTTCATTGAGAGAAAGACATTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 102593 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AOAH 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
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
|
AOAH - acyloxyacyl hydrolase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001177506.1 | 1677 | Missense Mutation | CAT,CTT | H,L 667 | NP_001170977.1 | |
NM_001177507.1 | 1677 | UTR 3 | NP_001170978.1 | |||
NM_001637.3 | 1677 | UTR 3 | NP_001628.1 | |||
XM_011515333.2 | 1677 | Missense Mutation | CAT,CTT | H,L 642 | XP_011513635.1 | |
XM_011515334.2 | 1677 | Missense Mutation | CAT,CTT | H,L 635 | XP_011513636.1 | |
XM_011515335.2 | 1677 | Missense Mutation | CAT,CTT | H,L 626 | XP_011513637.1 | |
XM_011515336.2 | 1677 | Intron | XP_011513638.1 | |||
XM_011515338.2 | 1677 | Intron | XP_011513640.1 | |||
XM_011515339.2 | 1677 | Intron | XP_011513641.1 | |||
XM_011515340.2 | 1677 | Intron | XP_011513642.1 | |||
XM_011515341.2 | 1677 | Intron | XP_011513643.1 | |||
XM_011515342.2 | 1677 | Missense Mutation | CAT,CTT | H,L 390 | XP_011513644.1 | |
XM_017012102.1 | 1677 | UTR 3 | XP_016867591.1 | |||
XM_017012103.1 | 1677 | Missense Mutation | CAT,CTT | H,L 492 | XP_016867592.1 | |
XM_017012104.1 | 1677 | Intron | XP_016867593.1 | |||
XM_017012105.1 | 1677 | Missense Mutation | CAT,CTT | H,L 436 | XP_016867594.1 | |
XM_017012106.1 | 1677 | Intron | XP_016867595.1 |