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GTCTCATGTTGTCAATATCAAGATT[A/G]TCAGCTGTGAGCATTTCCCTGTAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616261 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PUS7 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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PUS7 - pseudouridylate synthase 7 (putative) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318163.1 | 1688 | Silent Mutation | GAC,GAT | D,D 560 | NP_001305092.1 | |
NM_001318164.1 | 1688 | Silent Mutation | GAC,GAT | D,D 554 | NP_001305093.1 | |
NM_019042.4 | 1688 | Silent Mutation | GAC,GAT | D,D 554 | NP_061915.2 | |
XM_005250462.3 | 1688 | Silent Mutation | GAC,GAT | D,D 560 | XP_005250519.1 | |
XM_011516336.2 | 1688 | Silent Mutation | GAC,GAT | D,D 526 | XP_011514638.1 | |
XM_017012367.1 | 1688 | Silent Mutation | GAC,GAT | D,D 560 | XP_016867856.1 | |
XM_017012368.1 | 1688 | Silent Mutation | GAC,GAT | D,D 251 | XP_016867857.1 |