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AGCAGCAAATTCTGTGAAAGGCCCA[C/T]GAAGCTGGAGCATAACCAGTAGAGA
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 |
---|---|---|
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 |
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 | 979 | Missense Mutation | ATG,GTG | M,V 289 | NP_001284661.1 | |
NM_001297733.1 | 979 | Missense Mutation | ATG,GTG | M,V 137 | NP_001284662.1 | |
NM_001300729.1 | 979 | Missense Mutation | ATG,GTG | M,V 291 | NP_001287658.1 | |
NM_173827.3 | 979 | Missense Mutation | ATG,GTG | M,V 288 | NP_776188.1 | |
XM_005265680.4 | 979 | Missense Mutation | CAT,CGT | H,R 290 | XP_005265737.1 | |
XM_011531878.2 | 979 | Missense Mutation | ATG,GTG | M,V 138 | XP_011530180.1 | |
XM_017008045.1 | 979 | Missense Mutation | CAT,CGT | H,R 289 | XP_016863534.1 |