Product Details

SNP ID
rs147333862
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:82172481 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAAAAGTGACTGGGGCTACCATGG[A/G]TGGAGCAGTCACTGAAGAAGATAGC
Phenotype
MIM: 606457
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
IBTK PubMed Links

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 5042 Missense Mutation CCC,TCC P1262S NP_001287835.1
NM_015525.3 5042 Missense Mutation CCC,TCC P1277S NP_056340.2
XM_006715453.2 5042 Missense Mutation CCC,TCC P1318S XP_006715516.1
XM_006715454.2 5042 Missense Mutation CCC,TCC P1303S XP_006715517.1

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