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ATCCCCCGCCCCACCACCCGCTCGG[C/T]TCTCGCGTCCTCCTCTTCCTCCTCC
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609194 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
CABLES1 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 | 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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CABLES1 - Cdk5 and Abl enzyme substrate 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001100619.2 | 471 | Intron | NP_001094089.1 | |||
NM_001256438.1 | 471 | Intron | NP_001243367.1 | |||
NM_138375.2 | 471 | Intron | NP_612384.1 |
LOC105372022 - uncharacterized LOC105372022 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
XM_011526281.2 | 471 | Silent Mutation | GAA,GAG | E,E 148 | XP_011524583.1 | |
XM_011526282.2 | 471 | Silent Mutation | GAA,GAG | E,E 148 | XP_011524584.1 |