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AAAGTCATGCGGCCATCGTTCAGAC[A/G]CACCAGGGGGCCTCCCGAATCGCCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610469 MIM: 173370 | ||||||||||||||||||||
Literature Links: |
AP3M2 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 |
AP3M2 - adaptor related protein complex 3 mu 2 subunit | ||||||
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There are no transcripts associated with this gene. |
PLAT - plasminogen activator, tissue type | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000930.4 | 1674 | Missense Mutation | CGT,TGT | R,C 519 | NP_000921.1 | |
NM_001319189.1 | 1674 | Missense Mutation | CGT,TGT | R,C 430 | NP_001306118.1 | |
NM_033011.3 | 1674 | Missense Mutation | CGT,TGT | R,C 473 | NP_127509.1 |