Product Details

SNP ID
rs141043970
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:82171529 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCCAAATGCCTCATAGAAAACCA[A/C]TAAATCTTGTATGGCATGCTCCTCA
Phenotype
MIM: 606457
Polymorphism
A/C, Transversion 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 5171 Missense Mutation GTG,TTG V1305L NP_001287835.1
NM_015525.3 5171 Missense Mutation GTG,TTG V1320L NP_056340.2
XM_006715453.2 5171 Missense Mutation GTG,TTG V1361L XP_006715516.1
XM_006715454.2 5171 Missense Mutation GTG,TTG V1346L XP_006715517.1

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