Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 107748 MIM: 610107 MIM: 609865 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
APEX1 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)
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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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APEX1 - apurinic/apyrimidinic endodeoxyribonuclease 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001244249.1 | 419 | Missense Mutation | CAC,CAG | H,Q 51 | NP_001231178.1 | |
NM_001641.3 | 419 | Missense Mutation | CAC,CAG | H,Q 51 | NP_001632.2 | |
NM_080648.2 | 419 | Missense Mutation | CAC,CAG | H,Q 51 | NP_542379.1 | |
NM_080649.2 | 419 | Missense Mutation | CAC,CAG | H,Q 51 | NP_542380.1 |
OSGEP - O-sialoglycoprotein endopeptidase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017807.3 | 419 | Intron | NP_060277.1 |
TMEM55B - transmembrane protein 55B | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |