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TGAATCTGACTTGGTCGATGGTATT[C/T]GGCAAAGTTGGCGAAATCCAGGAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610428 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COX18 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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COX18 - COX18, cytochrome c oxidase assembly factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001297732.1 | 1034 | Missense Mutation | CAA,CGA | Q,R 307 | NP_001284661.1 | |
NM_001297733.1 | 1034 | Missense Mutation | CAA,CGA | Q,R 155 | NP_001284662.1 | |
NM_001300729.1 | 1034 | Missense Mutation | CAA,CGA | Q,R 309 | NP_001287658.1 | |
NM_173827.3 | 1034 | Missense Mutation | CAA,CGA | Q,R 306 | NP_776188.1 | |
XM_005265680.4 | 1034 | Silent Mutation | CCA,CCG | P,P 308 | XP_005265737.1 | |
XM_011531878.2 | 1034 | Missense Mutation | CAA,CGA | Q,R 156 | XP_011530180.1 | |
XM_017008045.1 | 1034 | Silent Mutation | CCA,CCG | P,P 307 | XP_016863534.1 |