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GCTGTGTCGATGTCCCTTGAAATGG[C/T]GCTGGTTTGGAAGCTGCGGCTAGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603193 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATP5G2 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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ATP5G2 - ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001002031.2 | 502 | Missense Mutation | ACC,GCC | T,A 79 | NP_001002031.1 | |
NM_005176.5 | 502 | Missense Mutation | NP_005167.2 | |||
XM_017019460.1 | 502 | Missense Mutation | ACC,GCC | T,A 120 | XP_016874949.1 | |
XM_017019461.1 | 502 | Missense Mutation | ACC,GCC | T,A 79 | XP_016874950.1 | |
XM_017019462.1 | 502 | Missense Mutation | ACC,GCC | T,A 63 | XP_016874951.1 |