Product Details

SNP ID

rs200943020

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:82172487 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGACTGGGGCTACCATGGATGGAG[A/C]AGTCACTGAAGAAGATAGCCAGGGA

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	5036	Missense Mutation	GCT,TCT	A1260S	NP_001287835.1
NM_015525.3	5036	Missense Mutation	GCT,TCT	A1275S	NP_056340.2
XM_006715453.2	5036	Missense Mutation	GCT,TCT	A1316S	XP_006715516.1
XM_006715454.2	5036	Missense Mutation	GCT,TCT	A1301S	XP_006715517.1

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