Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTCAGGAAGAAGAAAAATTAATCCA[A/G]CAGGAACTGAGTAGTCTGAAAGCGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 607244 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AP4E1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
AP4E1 - adaptor related protein complex 4 epsilon 1 subunit | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001252127.1 | 278 | UTR 5 | NP_001239056.1 | |||
NM_007347.4 | 278 | Silent Mutation | CAA,CAG | Q,Q 57 | NP_031373.2 | |
XM_005254264.3 | 278 | UTR 5 | XP_005254321.1 | |||
XM_006720447.3 | 278 | UTR 5 | XP_006720510.1 | |||
XM_017022042.1 | 278 | UTR 5 | XP_016877531.1 |