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CGGCTCTCAGCTGTCCGGTTCCAGC[A/G]TCCACTCCGACAGCCACTGCAGGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613201 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHTF18 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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CHTF18 - chromosome transmission fidelity factor 18 | ||||||
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There are no transcripts associated with this gene. |
RPUSD1 - RNA pseudouridylate synthase domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001324086.1 | 965 | Missense Mutation | ACG,ATG | T,M 310 | NP_001311015.1 | |
NM_001324410.1 | 965 | Missense Mutation | ACG,ATG | T,M 181 | NP_001311339.1 | |
NM_001324411.1 | 965 | UTR 3 | NP_001311340.1 | |||
NM_001324412.1 | 965 | Missense Mutation | ACG,ATG | T,M 178 | NP_001311341.1 | |
NM_001324413.1 | 965 | Missense Mutation | ACG,ATG | T,M 178 | NP_001311342.1 | |
NM_001324414.1 | 965 | Missense Mutation | ACG,ATG | T,M 178 | NP_001311343.1 | |
NM_001324415.1 | 965 | Missense Mutation | ACG,ATG | T,M 178 | NP_001311344.1 | |
NM_058192.2 | 965 | Missense Mutation | ACG,ATG | T,M 307 | NP_478072.1 |