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CTTGCTTGCTGAGATGCTCCGGAGA[A/G]AATGCAAGCTCTGCGTCTGCTGCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
20 submissions
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Phenotype: |
MIM: 602784 MIM: 601882 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
APITD1-CORT 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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APITD1-CORT - APITD1-CORT readthrough | ||||||
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There are no transcripts associated with this gene. |
CORT - cortistatin | ||||||
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There are no transcripts associated with this gene. |
DFFA - DNA fragmentation factor subunit alpha | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004401.2 | 1012 | Missense Mutation | TCT,TTT | S,F 305 | NP_004392.1 | |
NM_213566.1 | 1012 | UTR 3 | NP_998731.1 |