Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCTCTAAGTCCAGGGACTCCATGT[A/G]CTCATACTCCTCTTCCGGGGGCTGT
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 |
---|---|---|
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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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 | 1586 | Missense Mutation | CAC,TAC | H,Y 328 | NP_776172.1 | |
XM_011520025.1 | 1586 | Missense Mutation | CAC,TAC | H,Y 356 | XP_011518327.1 | |
XM_011520026.2 | 1586 | Missense Mutation | CAC,TAC | H,Y 356 | XP_011518328.1 | |
XM_011520027.1 | 1586 | Missense Mutation | CAC,TAC | H,Y 356 | XP_011518329.1 | |
XM_011520028.2 | 1586 | Missense Mutation | CAC,TAC | H,Y 356 | XP_011518330.1 | |
XM_011520029.2 | 1586 | Missense Mutation | CAC,TAC | H,Y 356 | XP_011518331.1 | |
XM_017017602.1 | 1586 | Missense Mutation | CAC,TAC | H,Y 356 | XP_016873091.1 | |
XM_017017603.1 | 1586 | Missense Mutation | CAC,TAC | H,Y 356 | XP_016873092.1 | |
XM_017017604.1 | 1586 | Missense Mutation | CAC,TAC | H,Y 328 | XP_016873093.1 | |
XM_017017605.1 | 1586 | Missense Mutation | CAC,TAC | H,Y 328 | XP_016873094.1 | |
XM_017017606.1 | 1586 | Missense Mutation | CAC,TAC | H,Y 328 | XP_016873095.1 |