Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TACATTTTTATCTTTCAGAATGTTG[A/G]CTACCAGGGTATTTAGCCTAGTTGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 123864 MIM: 604886 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
COX4I1 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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COX4I1 - cytochrome c oxidase subunit 4I1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318786.1 | 194 | Missense Mutation | ACT,GCT | T,A 3 | NP_001305715.1 | |
NM_001318788.1 | 194 | Missense Mutation | ACT,GCT | T,A 3 | NP_001305717.1 | |
NM_001318794.1 | 194 | Missense Mutation | ACT,GCT | T,A 3 | NP_001305723.1 | |
NM_001318797.1 | 194 | UTR 5 | NP_001305726.1 | |||
NM_001318802.1 | 194 | UTR 5 | NP_001305731.1 | |||
NM_001861.4 | 194 | Missense Mutation | ACT,GCT | T,A 3 | NP_001852.1 |
EMC8 - ER membrane protein complex subunit 8 | ||||||
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There are no transcripts associated with this gene. |
LOC101928557 - uncharacterized LOC101928557 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |