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CCCACTGACTGATCTTCCTCTCCAC[C/T]CTGACCCTCTTCCTCCTCCTGTTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611359 | ||||||||||||||||||||||||||||||||||||||
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) - 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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AMBRA1 - autophagy and beclin 1 regulator 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001267782.1 | 4265 | UTR 3 | NP_001254711.1 | |||
NM_001267783.1 | 4265 | UTR 3 | NP_001254712.1 | |||
NM_001300731.1 | 4265 | UTR 3 | NP_001287660.1 | |||
NM_017749.3 | 4265 | UTR 3 | NP_060219.2 | |||
XM_005253009.3 | 4265 | UTR 3 | XP_005253066.1 | |||
XM_005253011.3 | 4265 | UTR 3 | XP_005253068.1 | |||
XM_005253014.3 | 4265 | UTR 3 | XP_005253071.1 | |||
XM_006718259.2 | 4265 | UTR 3 | XP_006718322.1 | |||
XM_006718260.2 | 4265 | UTR 3 | XP_006718323.1 | |||
XM_017018007.1 | 4265 | UTR 3 | XP_016873496.1 | |||
XM_017018008.1 | 4265 | Intron | XP_016873497.1 |