Product Details

SNP ID

rs16893967

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:82172386 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TACTAAGTATGTTATTTACCTGAAT[C/T]AGAGCCAACGGTTTTTCTCGACTTC

Phenotype

MIM: 606457

Polymorphism

C/T, 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	5137	Silent Mutation	CTA,CTG	L1293L	NP_001287835.1
NM_015525.3	5137	Silent Mutation	CTA,CTG	L1308L	NP_056340.2
XM_006715453.2	5137	Silent Mutation	CTA,CTG	L1349L	XP_006715516.1
XM_006715454.2	5137	Silent Mutation	CTA,CTG	L1334L	XP_006715517.1

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