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AGAATTCAAAGTCTTCTCCTGCCAT[A/G]GCGAGAGCCCAGGCGAACCTCTCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606387 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TOP1MT 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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TOP1MT - topoisomerase (DNA) I, mitochondrial | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001258446.1 | 1809 | Silent Mutation | GCC,GCT | A,A 495 | NP_001245375.1 | |
NM_001258447.1 | 1809 | Silent Mutation | GCC,GCT | A,A 495 | NP_001245376.1 | |
NM_052963.2 | 1809 | Silent Mutation | GCC,GCT | A,A 593 | NP_443195.1 | |
XM_005250781.3 | 1809 | Intron | XP_005250838.1 |
ZNF696 - zinc finger protein 696 | ||||||
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There are no transcripts associated with this gene. |