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GGGGAAGCTGCAGGAGTTCGGCGTG[G/T]GTGATGGCAGCAAGCTGACCTTGGT
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 | |||
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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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ATP5D - ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit | ||||||
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There are no transcripts associated with this gene. |
MIDN - midnolin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_177401.4 | 786 | Missense Mutation | GGT,TGT | G,C 91 | NP_796375.3 | |
XM_005259671.3 | 786 | Missense Mutation | GGT,TGT | G,C 91 | XP_005259728.1 | |
XM_005259672.3 | 786 | Missense Mutation | GGT,TGT | G,C 91 | XP_005259729.1 |