Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605265 MIM: 180903 | |||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
AVEN 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)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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AVEN - apoptosis and caspase activation inhibitor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020371.2 | 922 | Missense Mutation | CAG,CGG | Q,R 228 | NP_065104.1 | |
XM_011521818.2 | 922 | Missense Mutation | CAG,CGG | Q,R 163 | XP_011520120.1 | |
XM_011521819.2 | 922 | Missense Mutation | CAG,CGG | Q,R 153 | XP_011520121.1 | |
XM_011521820.1 | 922 | Missense Mutation | CAG,CGG | Q,R 142 | XP_011520122.1 |
RYR3 - ryanodine receptor 3 | ||||||
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There are no transcripts associated with this gene. |