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ACATAGGAAATTCAGAAAATGAATG[A/T]ATCCATCCGCTCAGGGGTCTTCTCA
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 | |||
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Global
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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 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005694.1 | 98 | Intron | NP_005685.1 |
POPDC2 - popeye domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308333.1 | 98 | UTR 5 | NP_001295262.1 | |||
NM_022135.3 | 98 | UTR 5 | NP_071418.2 | |||
XM_005247698.3 | 98 | UTR 5 | XP_005247755.1 |