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TGGTGCTCTGCTCCCGCTGCACCAC[A/G]GCTGTCATGCCGCCCTCCGCCATCA
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)
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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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001267782.1 | 3725 | Silent Mutation | GCC,GCT | A,A 1165 | NP_001254711.1 | |
NM_001267783.1 | 3725 | Silent Mutation | GCC,GCT | A,A 1043 | NP_001254712.1 | |
NM_001300731.1 | 3725 | Silent Mutation | GCC,GCT | A,A 1102 | NP_001287660.1 | |
NM_017749.3 | 3725 | Silent Mutation | GCC,GCT | A,A 1072 | NP_060219.2 | |
XM_005253009.3 | 3725 | Silent Mutation | GCC,GCT | A,A 1162 | XP_005253066.1 | |
XM_005253011.3 | 3725 | Silent Mutation | GCC,GCT | A,A 1133 | XP_005253068.1 | |
XM_005253014.3 | 3725 | Silent Mutation | GCC,GCT | A,A 1072 | XP_005253071.1 | |
XM_006718259.2 | 3725 | Silent Mutation | GCC,GCT | A,A 1162 | XP_006718322.1 | |
XM_006718260.2 | 3725 | Silent Mutation | GCC,GCT | A,A 983 | XP_006718323.1 | |
XM_017018007.1 | 3725 | Silent Mutation | GCC,GCT | A,A 1073 | XP_016873496.1 | |
XM_017018008.1 | 3725 | Intron | XP_016873497.1 |