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GCTTGTACTCTTGGTGTCCACAAGG[A/G]AGACTGTCCCATTCTCATCACCTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
15 submissions
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Phenotype: |
MIM: 603270 MIM: 611734 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATP5F1 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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ATP5F1 - ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 | ||||||
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There are no transcripts associated with this gene. |
WDR77 - WD repeat domain 77 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317062.1 | 852 | Missense Mutation | TCC,TTC | S,F 238 | NP_001303991.1 | |
NM_001317063.1 | 852 | Missense Mutation | TCC,TTC | S,F 238 | NP_001303992.1 | |
NM_001317064.1 | 852 | Missense Mutation | TCC,TTC | S,F 174 | NP_001303993.1 | |
NM_024102.3 | 852 | Missense Mutation | TCC,TTC | S,F 238 | NP_077007.1 |