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ACAGTGGCATTGTGTCTTCCAGGAT[C/T]GACTGCGGGCCACCTGCACACTCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609676 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MAVS 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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MAVS - mitochondrial antiviral signaling protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001206491.1 | 293 | Intron | NP_001193420.1 | |||
NM_020746.4 | 293 | Nonsense Mutation | CGA,TGA | R,* 41 | NP_065797.2 |