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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