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AGACAACTTACCTGTGATCTTGACA[C/T]AGGCAAACCAAGTCCCACAGTGTTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607265 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLINT1 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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CLINT1 - clathrin interactor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001195555.1 | 1571 | Missense Mutation | NP_001182484.1 | |||
NM_001195556.1 | 1571 | Missense Mutation | NP_001182485.1 | |||
NM_014666.3 | 1571 | Missense Mutation | NP_055481.1 | |||
XM_011534701.2 | 1571 | Missense Mutation | XP_011533003.1 | |||
XM_017010087.1 | 1571 | Missense Mutation | XP_016865576.1 | |||
XM_017010088.1 | 1571 | Missense Mutation | XP_016865577.1 |