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CCTTACCCCTCCTACCCCAGGCTCC[C/T]GGCTGCAGCGCCTGGTCCCAGCCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606758 MIM: 612771 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DUOX1 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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DUOX1 - dual oxidase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017434.4 | 195 | Missense Mutation | CGG,TGG | R,W 50 | NP_059130.2 | |
NM_175940.2 | 195 | Missense Mutation | CGG,TGG | R,W 50 | NP_787954.1 | |
XM_011521681.2 | 195 | Missense Mutation | CGG,TGG | R,W 11 | XP_011519983.1 | |
XM_011521682.1 | 195 | Intron | XP_011519984.1 |
DUOXA1 - dual oxidase maturation factor 1 | ||||||
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There are no transcripts associated with this gene. |