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CTCCTTCTACCGCCACCATGTGAAC[C/T]TCAAGTCCTGGTGGGTGGGCGACAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607246 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AP3D1 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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AP3D1 - adaptor related protein complex 3 delta 1 subunit | ||||||
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There are no transcripts associated with this gene. |
IZUMO4 - IZUMO family member 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001031735.2 | 210 | Missense Mutation | CTC,TTC | L,F 38 | NP_001026905.2 | |
NM_001039846.1 | 210 | Missense Mutation | CTC,TTC | L,F 38 | NP_001034935.1 | |
XM_005259480.3 | 210 | Missense Mutation | CTC,TTC | L,F 38 | XP_005259537.2 |
MOB3A - MOB kinase activator 3A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_130807.2 | 210 | Intron | NP_570719.1 | |||
XM_011527683.2 | 210 | Intron | XP_011525985.1 |