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ATGAAGGAATGTATGGTGAGACTTA[C/T]ATATTGTGAAATGCTTGGATATGAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607244 | ||||||||||||||||||||
Literature Links: |
AP4E1 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 |
AP4E1 - adaptor related protein complex 4 epsilon 1 subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001252127.1 | 384 | Missense Mutation | ACA,ATA | T,I 10 | NP_001239056.1 | |
NM_007347.4 | 384 | Missense Mutation | ACA,ATA | T,I 85 | NP_031373.2 | |
XM_005254264.3 | 384 | Missense Mutation | ACA,ATA | T,I 10 | XP_005254321.1 | |
XM_006720447.3 | 384 | Missense Mutation | ACA,ATA | T,I 10 | XP_006720510.1 | |
XM_017022042.1 | 384 | UTR 5 | XP_016877531.1 |