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GGTTCTCGGCGTCGGTTCGGCTGAT[A/G]GCCCCGTGATACCAGCTAAGGATGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606758 | ||||||||||||||||||||||||||||||||||||||
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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There are no transcripts associated with this gene. |
SHF - Src homology 2 domain containing F | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301168.1 | 1189 | Silent Mutation | GCC,GCT | A,A 345 | NP_001288097.1 | |
NM_001301169.1 | 1189 | Missense Mutation | CAT,TAT | H,Y 345 | NP_001288098.1 | |
NM_001301170.1 | 1189 | Intron | NP_001288099.1 | |||
NM_001301171.1 | 1189 | Silent Mutation | GCC,GCT | A,A 143 | NP_001288100.1 | |
NM_138356.2 | 1189 | Silent Mutation | GCC,GCT | A,A 327 | NP_612365.2 | |
XM_006720742.3 | 1189 | Missense Mutation | CAT,TAT | H,Y 392 | XP_006720805.2 | |
XM_011522174.2 | 1189 | Silent Mutation | GCC,GCT | A,A 392 | XP_011520476.1 | |
XM_011522175.2 | 1189 | Missense Mutation | CAT,TAT | H,Y 392 | XP_011520477.1 | |
XM_011522176.2 | 1189 | Silent Mutation | GCC,GCT | A,A 313 | XP_011520478.1 | |
XM_011522177.2 | 1189 | Missense Mutation | CCA,CTA | P,L 288 | XP_011520479.1 | |
XM_011522178.2 | 1189 | Missense Mutation | CCA,CTA | P,L 288 | XP_011520480.1 | |
XM_017022710.1 | 1189 | Intron | XP_016878199.1 | |||
XM_017022711.1 | 1189 | Silent Mutation | GCC,GCT | A,A 190 | XP_016878200.1 |