Product Details

SNP ID
rs1140386
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:10353075 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCTAGGTCTCGGTGGATGTAGTG[C/G]TGCGCGTGCAGATAGGCCATGCCCT
Phenotype
MIM: 176941
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TYK2 PubMed Links

Gene Details

Gene
TYK2
Gene Name
tyrosine kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003331.4 3164 Missense Mutation CAC,CAG H1017Q NP_003322.3
XM_011528245.1 3164 Missense Mutation CAC,CAG H1017Q XP_011526547.1
XM_011528246.2 3164 Missense Mutation CAC,CAG H918Q XP_011526548.1
XM_011528247.1 3164 Missense Mutation CAC,CAG H918Q XP_011526549.1
XM_011528249.2 3164 Missense Mutation CAC,CAG H575Q XP_011526551.1
XM_011528251.1 3164 Missense Mutation CAC,CAG H436Q XP_011526553.1
XM_011528252.1 3164 Intron XP_011526554.1

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