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Search Thermo Fisher Scientific
AAGACGCCGCAGAGGCACTCACTGA[G/A]ATGCTTGTAGGAAAAGGAGTAGCTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603052 | ||||||||||||||||||||
Literature Links: |
ATP5J2 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 |
ATP5J2 - ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001003713.2 | 295 | Missense Mutation | CTC,TTC | L,F 79 | NP_001003713.1 | |
NM_001003714.2 | 295 | Intron | NP_001003714.1 | |||
NM_001039178.2 | 295 | Intron | NP_001034267.1 | |||
NM_004889.3 | 295 | Missense Mutation | CTC,TTC | L,F 85 | NP_004880.1 |
ATP5J2-PTCD1 - ATP5J2-PTCD1 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001198879.1 | 295 | Intron | NP_001185808.1 |
CPSF4 - cleavage and polyadenylation specific factor 4 | ||||||
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There are no transcripts associated with this gene. |