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TCACTTACAGTGGGTAAAGGAAGAA[A/G]CCCCAGATATACTGTGCCTTCAAGA
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 |
---|---|---|
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 |
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 | 528 | Missense Mutation | ACC,GCC | T,A 88 | NP_001231178.1 | |
NM_001641.3 | 528 | Missense Mutation | ACC,GCC | T,A 88 | NP_001632.2 | |
NM_080648.2 | 528 | Missense Mutation | ACC,GCC | T,A 88 | NP_542379.1 | |
NM_080649.2 | 528 | Missense Mutation | ACC,GCC | T,A 88 | NP_542380.1 |
OSGEP - O-sialoglycoprotein endopeptidase | ||||||
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There are no transcripts associated with this gene. |
TMEM55B - transmembrane protein 55B | ||||||
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There are no transcripts associated with this gene. |