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GAGCAGAGATGGATGAAGAGGGTGC[C/T]GGCGGCGGTGCGGGCCCGCAGCTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608918 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATPAF2 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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ATPAF2 - ATP synthase mitochondrial F1 complex assembly factor 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_145691.3 | 814 | Missense Mutation | AGC,GGC | S,G 269 | NP_663729.1 | |
XM_005256848.3 | 814 | Intron | XP_005256905.1 | |||
XM_011524065.1 | 814 | Intron | XP_011522367.1 | |||
XM_017025302.1 | 814 | Missense Mutation | AGC,GGC | S,G 169 | XP_016880791.1 | |
XM_017025303.1 | 814 | Intron | XP_016880792.1 |
DRC3 - dynein regulatory complex subunit 3 | ||||||
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There are no transcripts associated with this gene. |