Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCGCTGCACCACGGCTGTCATGCCG[C/T]CCTCCGCCATCAGCCTCTGGATCCT
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 3712 | Missense Mutation | GAC,GGC | D,G 1161 | NP_001254711.1 | |
NM_001267783.1 | 3712 | Missense Mutation | GAC,GGC | D,G 1039 | NP_001254712.1 | |
NM_001300731.1 | 3712 | Missense Mutation | GAC,GGC | D,G 1098 | NP_001287660.1 | |
NM_017749.3 | 3712 | Missense Mutation | GAC,GGC | D,G 1068 | NP_060219.2 | |
XM_005253009.3 | 3712 | Missense Mutation | GAC,GGC | D,G 1158 | XP_005253066.1 | |
XM_005253011.3 | 3712 | Missense Mutation | GAC,GGC | D,G 1129 | XP_005253068.1 | |
XM_005253014.3 | 3712 | Missense Mutation | GAC,GGC | D,G 1068 | XP_005253071.1 | |
XM_006718259.2 | 3712 | Missense Mutation | GAC,GGC | D,G 1158 | XP_006718322.1 | |
XM_006718260.2 | 3712 | Missense Mutation | GAC,GGC | D,G 979 | XP_006718323.1 | |
XM_017018007.1 | 3712 | Missense Mutation | GAC,GGC | D,G 1069 | XP_016873496.1 | |
XM_017018008.1 | 3712 | Intron | XP_016873497.1 |