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CTGGACCCCACCATGGCTCACCGGC[C/T]CCCCAGCCCTGCCCTGGCGTCCGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 162815 MIM: 130130 MIM: 177020 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AZU1 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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AZU1 - azurocidin 1 | ||||||
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There are no transcripts associated with this gene. |
ELANE - elastase, neutrophil expressed | ||||||
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There are no transcripts associated with this gene. |
PRTN3 - proteinase 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002777.3 | 58 | Missense Mutation | CCC,CTC | P,L 5 | NP_002768.3 | |
XM_011528136.1 | 58 | Missense Mutation | CCC,CTC | P,L 5 | XP_011526438.1 |