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GGCTGTAAACACCCATGTAGCAACA[C/T]AGAAAGCAGTTCCACTGGCTAGCAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609811 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COX7B2 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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COX7B2 - cytochrome c oxidase subunit 7B2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_130902.2 | 218 | Missense Mutation | TAT,TGT | Y,C 50 | NP_570972.2 | |
XM_005248056.4 | 218 | Missense Mutation | TAT,TGT | Y,C 50 | XP_005248113.1 | |
XM_011513630.2 | 218 | Missense Mutation | TAT,TGT | Y,C 50 | XP_011511932.1 | |
XM_011513631.2 | 218 | Missense Mutation | TAT,TGT | Y,C 50 | XP_011511933.1 | |
XM_011513632.2 | 218 | Missense Mutation | TAT,TGT | Y,C 50 | XP_011511934.1 | |
XM_011513633.2 | 218 | Missense Mutation | TAT,TGT | Y,C 50 | XP_011511935.1 | |
XM_011513634.2 | 218 | Missense Mutation | TAT,TGT | Y,C 50 | XP_011511936.1 | |
XM_011513635.2 | 218 | Missense Mutation | TAT,TGT | Y,C 50 | XP_011511937.1 | |
XM_011513636.1 | 218 | Missense Mutation | TAT,TGT | Y,C 50 | XP_011511938.1 | |
XM_011513637.2 | 218 | Missense Mutation | TAT,TGT | Y,C 50 | XP_011511939.1 | |
XM_011513638.2 | 218 | Missense Mutation | TAT,TGT | Y,C 50 | XP_011511940.1 |