Product Details

SNP ID

rs199622510

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:82173372 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTTATCAATTAACCTTACTTGGG[A/G]CTGTCTAGAAGTGGTAAATCTGAAA

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	5005	Silent Mutation	AGC,AGT	S1249S	NP_001287835.1
NM_015525.3	5005	Silent Mutation	AGC,AGT	S1264S	NP_056340.2
XM_006715453.2	5005	Silent Mutation	AGC,AGT	S1305S	XP_006715516.1
XM_006715454.2	5005	Silent Mutation	AGC,AGT	S1290S	XP_006715517.1

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