Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCCCACAGCACGCAGCACAGGTAAC[C/G]TGCACTCAGGAAGCCAAAAAGATAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604813 MIM: 605823 | ||||||||||||||||||||
Literature Links: |
COX17 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 |
COX17 - COX17, cytochrome c oxidase copper chaperone | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005694.1 | 345 | Intron | NP_005685.1 |
POPDC2 - popeye domain containing 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308333.1 | 345 | Missense Mutation | CGT,GGT | R,G 60 | NP_001295262.1 | |
NM_022135.3 | 345 | Missense Mutation | CGT,GGT | R,G 60 | NP_071418.2 | |
XM_005247698.3 | 345 | Missense Mutation | CGT,GGT | R,G 60 | XP_005247755.1 |