Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AAGGCCTGCACGAGCTGGTCCAGCG[A/G]CTGCAGCAGTGTGTGGGGGCTCCAG
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 781 | Missense Mutation | CCG,TCG | P,S 249 | NP_001311015.1 | |
NM_001324410.1 | 781 | Missense Mutation | CCG,TCG | P,S 120 | NP_001311339.1 | |
NM_001324411.1 | 781 | UTR 3 | NP_001311340.1 | |||
NM_001324412.1 | 781 | Missense Mutation | CCG,TCG | P,S 117 | NP_001311341.1 | |
NM_001324413.1 | 781 | Missense Mutation | CCG,TCG | P,S 117 | NP_001311342.1 | |
NM_001324414.1 | 781 | Missense Mutation | CCG,TCG | P,S 117 | NP_001311343.1 | |
NM_001324415.1 | 781 | Missense Mutation | CCG,TCG | P,S 117 | NP_001311344.1 | |
NM_058192.2 | 781 | Missense Mutation | CCG,TCG | P,S 246 | NP_478072.1 |