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CTGAGACAGGACAGGCTTCAGTTCC[C/T]GCAGCAGAACAGAGCCAATCACAGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603401 | ||||||||||||||||||||
Literature Links: |
AP3B1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
AP3B1 - adaptor related protein complex 3 beta 1 subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271769.1 | 3218 | Missense Mutation | CAG,CGG | Q,R 1036 | NP_001258698.1 | |
NM_003664.4 | 3218 | Missense Mutation | CAG,CGG | Q,R 1085 | NP_003655.3 | |
XM_005248618.3 | 3218 | UTR 3 | XP_005248675.1 | |||
XM_005248619.4 | 3218 | Intron | XP_005248676.1 | |||
XM_017010001.1 | 3218 | UTR 3 | XP_016865490.1 |