Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCGCTTTGCTCCAATTCAGCGATGA[C/T]AGACATATATTTGAACTCATTTGGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
11 submissions
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Phenotype: |
MIM: 608917 | ||||||||||||||||||||
Literature Links: |
ATPAF1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | 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 |
ATPAF1 - ATP synthase mitochondrial F1 complex assembly factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042546.2 | 973 | Missense Mutation | ATC,GTC | I,V 261 | NP_001036011.2 | |
NM_001243728.1 | 973 | Missense Mutation | ATC,GTC | I,V 218 | NP_001230657.1 | |
NM_001256418.1 | 973 | Missense Mutation | ATC,GTC | I,V 155 | NP_001243347.1 | |
NM_022745.4 | 973 | Missense Mutation | ATC,GTC | I,V 329 | NP_073582.3 |