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ACTTGGAACTTTCCAGCTTTCGTGA[C/T]GTATTTGACTCCTTTAAATGGCTTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610366 MIM: 193065 | ||||||||||||||||||||
Literature Links: |
AP3M1 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 |
AP3M1 - adaptor related protein complex 3 mu 1 subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320263.1 | 1556 | Missense Mutation | ATC,GTC | I,V 408 | NP_001307192.1 | |
NM_001320264.1 | 1556 | Missense Mutation | ATC,GTC | I,V 408 | NP_001307193.1 | |
NM_001320265.1 | 1556 | Missense Mutation | ATC,GTC | I,V 354 | NP_001307194.1 | |
NM_012095.5 | 1556 | Missense Mutation | ATC,GTC | I,V 408 | NP_036227.1 | |
NM_207012.3 | 1556 | Missense Mutation | ATC,GTC | I,V 408 | NP_996895.1 |
VCL - vinculin | ||||||
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There are no transcripts associated with this gene. |