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CTCTGCCCATTGATCTCAATGATGC[A/G]GTGGCCGACGCGGATGCCCCCACGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604262 MIM: 612689 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
APBA3 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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APBA3 - amyloid beta precursor protein binding family A member 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004886.3 | 1876 | Missense Mutation | CGC,TGC | R,C 525 | NP_004877.1 | |
XM_006722950.3 | 1876 | Silent Mutation | ACC,ACT | T,T 559 | XP_006723013.1 | |
XM_006722951.3 | 1876 | Silent Mutation | ACC,ACT | T,T 317 | XP_006723014.1 |
TJP3 - tight junction protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001267560.1 | 1876 | Intron | NP_001254489.1 | |||
NM_001267561.1 | 1876 | Intron | NP_001254490.1 |