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TACGGTCAGCCTCTAAGTCCAGGGA[C/T]TCCATGTGCTCATACTCCTCTTCCG
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611359 MIM: 615086 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
AMBRA1 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)
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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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AMBRA1 - autophagy and beclin 1 regulator 1 | ||||||
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There are no transcripts associated with this gene. |
HARBI1 - harbinger transposase derived 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_173811.3 | 1594 | Silent Mutation | GAA,GAG | E,E 330 | NP_776172.1 | |
XM_011520025.1 | 1594 | Silent Mutation | GAA,GAG | E,E 358 | XP_011518327.1 | |
XM_011520026.2 | 1594 | Silent Mutation | GAA,GAG | E,E 358 | XP_011518328.1 | |
XM_011520027.1 | 1594 | Silent Mutation | GAA,GAG | E,E 358 | XP_011518329.1 | |
XM_011520028.2 | 1594 | Silent Mutation | GAA,GAG | E,E 358 | XP_011518330.1 | |
XM_011520029.2 | 1594 | Silent Mutation | GAA,GAG | E,E 358 | XP_011518331.1 | |
XM_017017602.1 | 1594 | Silent Mutation | GAA,GAG | E,E 358 | XP_016873091.1 | |
XM_017017603.1 | 1594 | Silent Mutation | GAA,GAG | E,E 358 | XP_016873092.1 | |
XM_017017604.1 | 1594 | Silent Mutation | GAA,GAG | E,E 330 | XP_016873093.1 | |
XM_017017605.1 | 1594 | Silent Mutation | GAA,GAG | E,E 330 | XP_016873094.1 | |
XM_017017606.1 | 1594 | Silent Mutation | GAA,GAG | E,E 330 | XP_016873095.1 |