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CTTGGGGTTCCCTGCAGAGAGTCGG[A/G]GAGGTAGCCGCCCCTTCTCCTCCCG
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 |
---|---|---|
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 |
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 | 1070 | Missense Mutation | CCC,CTC | P,L 305 | NP_001288097.1 | |
NM_001301169.1 | 1070 | Missense Mutation | CCC,CTC | P,L 305 | NP_001288098.1 | |
NM_001301170.1 | 1070 | Intron | NP_001288099.1 | |||
NM_001301171.1 | 1070 | Missense Mutation | CCC,CTC | P,L 103 | NP_001288100.1 | |
NM_138356.2 | 1070 | Missense Mutation | CCC,CTC | P,L 287 | NP_612365.2 | |
XM_006720742.3 | 1070 | Missense Mutation | CCC,CTC | P,L 352 | XP_006720805.2 | |
XM_011522174.2 | 1070 | Missense Mutation | CCC,CTC | P,L 352 | XP_011520476.1 | |
XM_011522175.2 | 1070 | Missense Mutation | CCC,CTC | P,L 352 | XP_011520477.1 | |
XM_011522176.2 | 1070 | Intron | XP_011520478.1 | |||
XM_011522177.2 | 1070 | Intron | XP_011520479.1 | |||
XM_011522178.2 | 1070 | Intron | XP_011520480.1 | |||
XM_017022710.1 | 1070 | Intron | XP_016878199.1 | |||
XM_017022711.1 | 1070 | Missense Mutation | CCC,CTC | P,L 150 | XP_016878200.1 |