Product Details

SNP ID
rs202144441
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:82172430 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGACTTCTAATAAGAGCTGCTTCTT[C/G]TTGTAGTTCTTCTTCTACAATAGAT
Phenotype
MIM: 606457
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
IBTK PubMed Links
Additional Information
For this assay, SNP(s) [rs16893967] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
IBTK
Gene Name
inhibitor of Bruton tyrosine kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300906.1 5093 Missense Mutation CAA,GAA Q1279E NP_001287835.1
NM_015525.3 5093 Missense Mutation CAA,GAA Q1294E NP_056340.2
XM_006715453.2 5093 Missense Mutation CAA,GAA Q1335E XP_006715516.1
XM_006715454.2 5093 Missense Mutation CAA,GAA Q1320E XP_006715517.1

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