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GGTGCCGAGAGGGACAGGCTTCTCC[A/G]GAAGGAACAGATTTTAGCTGTGGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614824 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AP5S1 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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AP5S1 - adaptor related protein complex 5 sigma 1 subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204446.1 | 400 | Missense Mutation | CAG,CGG | Q,R 50 | NP_001191375.1 | |
NM_001204447.1 | 400 | Missense Mutation | CAG,CGG | Q,R 50 | NP_001191376.1 | |
NM_018347.2 | 400 | Missense Mutation | CAG,CGG | Q,R 50 | NP_060817.1 |
LOC101929125 - uncharacterized LOC101929125 | ||||||
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There are no transcripts associated with this gene. |