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TTTCCCACCTCATTTCTTTTAACTC[C/T]TGTCTGTACTTCCGTTCGATGAACC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608828 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DROSHA 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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DROSHA - drosha ribonuclease III | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001100412.1 | 4461 | Silent Mutation | CAA,CAG | Q,Q 1313 | NP_001093882.1 | |
NM_013235.4 | 4461 | Silent Mutation | CAA,CAG | Q,Q 1350 | NP_037367.3 | |
XM_005248291.3 | 4461 | Silent Mutation | CAA,CAG | Q,Q 1350 | XP_005248348.1 | |
XM_005248292.3 | 4461 | Silent Mutation | CAA,CAG | Q,Q 1342 | XP_005248349.1 | |
XM_005248293.3 | 4461 | Silent Mutation | CAA,CAG | Q,Q 1319 | XP_005248350.1 | |
XM_005248294.3 | 4461 | Silent Mutation | CAA,CAG | Q,Q 1282 | XP_005248351.1 | |
XM_011514033.2 | 4461 | Intron | XP_011512335.1 | |||
XM_017009399.1 | 4461 | Silent Mutation | CAA,CAG | Q,Q 1311 | XP_016864888.1 | |
XM_017009400.1 | 4461 | Silent Mutation | CAA,CAG | Q,Q 1305 | XP_016864889.1 | |
XM_017009401.1 | 4461 | Silent Mutation | CAA,CAG | Q,Q 1274 | XP_016864890.1 | |
XM_017009402.1 | 4461 | Silent Mutation | CAA,CAG | Q,Q 782 | XP_016864891.1 |