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TGGCAGAGCTTGAGGATGCGGTCCA[C/T]GCACGGCAGCTCCTCGAACATAATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611184 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CTU2 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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CTU2 - cytosolic thiouridylase subunit 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001012759.2 | 7676 | Intron | NP_001012777.1 | |||
NM_001012762.2 | 7676 | Intron | NP_001012780.1 | |||
NM_001318507.1 | 7676 | Intron | NP_001305436.1 | |||
NM_001318513.1 | 7676 | Intron | NP_001305442.1 | |||
XM_017023210.1 | 7676 | Intron | XP_016878699.1 |
MIR4722 - microRNA 4722 | ||||||
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There are no transcripts associated with this gene. |
PIEZO1 - piezo type mechanosensitive ion channel component 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142864.3 | 7676 | Missense Mutation | ATG,GTG | M,V 2474 | NP_001136336.2 |
RNF166 - ring finger protein 166 | ||||||
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There are no transcripts associated with this gene. |