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CGACTTCTAATAAGAGCTGCTTCTT[C/G]TTGTAGTTCTTCTTCTACAATAGAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606457 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IBTK 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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IBTK - inhibitor of Bruton tyrosine kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300906.1 | 5093 | Missense Mutation | CAA,GAA | Q,E 1279 | NP_001287835.1 | |
NM_015525.3 | 5093 | Missense Mutation | CAA,GAA | Q,E 1294 | NP_056340.2 | |
XM_006715453.2 | 5093 | Missense Mutation | CAA,GAA | Q,E 1335 | XP_006715516.1 | |
XM_006715454.2 | 5093 | Missense Mutation | CAA,GAA | Q,E 1320 | XP_006715517.1 |