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CACAATTCAAAACAATTGAAGATGA[C/T]TTGGTGTCCGCCCTCGTCCGGTCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608109 MIM: 603168 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PUS1 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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PUS1 - pseudouridylate synthase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001002019.2 | 800 | Silent Mutation | GAC,GAT | D,D 87 | NP_001002019.1 | |
NM_001002020.2 | 800 | Silent Mutation | GAC,GAT | D,D 87 | NP_001002020.1 | |
NM_025215.5 | 800 | Silent Mutation | GAC,GAT | D,D 115 | NP_079491.2 | |
XM_011538768.2 | 800 | UTR 5 | XP_011537070.1 | |||
XM_011538769.2 | 800 | Silent Mutation | GAC,GAT | D,D 115 | XP_011537071.1 |
ULK1 - unc-51 like autophagy activating kinase 1 | ||||||
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There are no transcripts associated with this gene. |