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GCATACACCACTCCACCAAATAGGT[C/T]GTTCAAGATGGCTGCCAGGGCCTCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607342 MIM: 180472 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CPEB1 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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CPEB1 - cytoplasmic polyadenylation element binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001079533.1 | 1339 | Missense Mutation | AAC,GAC | N,D 377 | NP_001073001.1 | |
NM_001079534.1 | 1339 | Missense Mutation | AAC,GAC | N,D 372 | NP_001073002.1 | |
NM_001079535.1 | 1339 | Missense Mutation | AAC,GAC | N,D 372 | NP_001073003.1 | |
NM_001288819.1 | 1339 | Missense Mutation | AAC,GAC | N,D 372 | NP_001275748.1 | |
NM_001288820.1 | 1339 | Missense Mutation | AAC,GAC | N,D 221 | NP_001275749.1 | |
NM_030594.4 | 1339 | Missense Mutation | AAC,GAC | N,D 447 | NP_085097.3 |
RPS17 - ribosomal protein S17 | ||||||
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There are no transcripts associated with this gene. |