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GTGCAGCCACACAGGGTACAGACCT[A/G]TTTGGGACTGTCAGGTTCCCACGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608110 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BUB1B-PAK6 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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BUB1B-PAK6 - BUB1B-PAK6 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001128628.2 | 1430 | Intron | NP_001122100.1 | |||
NM_001128629.2 | 1430 | Intron | NP_001122101.1 |
C15orf56 - chromosome 15 open reading frame 56 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039905.2 | 1430 | UTR 3 | NP_001034994.1 |
PAK6 - p21 (RAC1) activated kinase 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001276717.1 | 1430 | Intron | NP_001263646.1 | |||
NM_001276718.1 | 1430 | Intron | NP_001263647.1 | |||
NM_020168.5 | 1430 | Intron | NP_064553.1 |