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GATGATAAAGACTTCGTTGAGAGTC[A/G]TGATAGCTGTTCACGCATCAATAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614368 MIM: 604469 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AP5M1 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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AP5M1 - adaptor related protein complex 5 mu 1 subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018229.3 | 614 | Missense Mutation | CAT,CGT | H,R 72 | NP_060699.3 | |
XM_006720196.2 | 614 | UTR 5 | XP_006720259.1 | |||
XM_011536940.2 | 614 | Missense Mutation | CAT,CGT | H,R 86 | XP_011535242.1 |
EXOC5 - exocyst complex component 5 | ||||||
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There are no transcripts associated with this gene. |