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Basic information of TYK2 :

Official Symbol of Gene TYK2
Species Homo sapiens
Entrez Gene ID 7297
Official Full Name tyrosine kinase 2
Also known as JTK1; IMD35
Gene Type protein coding
dbXrefs Ensembl:ENSG00000105397 MIM:176941; AllianceGenome:HGNC:12440
Map Location 19p13.2
Variation Type SNP
refSNP ID rs55762744

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail NA
Detected Method PCR
Disease MS
Disease subtype MS
Population German ancestry
Sample Size 4 MS Family

Literature information of multiple sclerosis :

Pubmed ID 22744673
Year 2012
Title Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result Within this pedigree, rs55762744 is common and appears to be a modifier of modest risk effect.
Mechanism/Pathway To identify rare variants contributing to multiple sclerosis (MS) susceptibility in a family we have previously reported with up to 15 individuals affected across 4 generations.