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GTGTGGCCAGCCGGGACTGCATGGC[C/T]TCCAGAGCCTCTTCCTCCTCCTCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610052 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHMP3 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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CHMP3 - charged multivesicular body protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001005753.2 | 721 | Silent Mutation | GAA,GAG | E,E 145 | NP_001005753.1 | |
NM_001193517.1 | 721 | Silent Mutation | GAA,GAG | E,E 171 | NP_001180446.1 | |
NM_016079.3 | 721 | Silent Mutation | GAA,GAG | E,E 211 | NP_057163.1 |
RNF103-CHMP3 - RNF103-CHMP3 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001198954.1 | 721 | Silent Mutation | GAA,GAG | E,E 240 | NP_001185883.1 |