Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCGCCGCCCGGGACTTGGCCGCCTC[C/G]TCCGCCACGCCCGTGCCTATGCCGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603150 MIM: 606700 | ||||||||||||||||||||
Literature Links: |
ATP5D 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 |
ATP5D - ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001001975.1 | 147 | Missense Mutation | CTC,GTC | L,V 16 | NP_001001975.1 | |
NM_001687.4 | 147 | Missense Mutation | CTC,GTC | L,V 16 | NP_001678.1 |
CBARP - CACN beta subunit associated regulatory protein | ||||||
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There are no transcripts associated with this gene. |
MIDN - midnolin | ||||||
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There are no transcripts associated with this gene. |