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TAGGGGGTCTGGCCCCAAACTGCCC[A/G]GTGGTCCGCCTCTCAGGACAGAGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
12 submissions
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Phenotype: |
MIM: 147892 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DIO1 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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DIO1 - deiodinase, iodothyronine type I | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000792.6 | 312 | Silent Mutation | CCA,CCG | P,P 96 | NP_000783.2 | |
NM_001039715.2 | 312 | Silent Mutation | CCA,CCG | P,P 96 | NP_001034804.1 | |
NM_001039716.2 | 312 | Silent Mutation | CCA,CCG | P,P 96 | NP_001034805.1 | |
NM_001324316.1 | 312 | Silent Mutation | CCA,CCG | P,P 96 | NP_001311245.1 | |
NM_213593.4 | 312 | Intron | NP_998758.1 |
YIPF1 - Yip1 domain family member 1 | ||||||
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There are no transcripts associated with this gene. |