Product Details

SNP ID
rs200256974
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:47698754 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACCTGCACTACCTGGCACTGAGA[C/G]GGGGATCTGGCTTGAGTCATGGTGA
Phenotype
MIM: 608476
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TBKBP1 PubMed Links

Gene Details

Gene
TBKBP1
Gene Name
TBK1 binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014726.2 1462 Missense Mutation CGG,GGG R205G NP_055541.1
XM_005257859.4 1462 Missense Mutation CGG,GGG R205G XP_005257916.1
XM_005257860.4 1462 Missense Mutation CGG,GGG R205G XP_005257917.1
XM_005257861.4 1462 Missense Mutation CGG,GGG R205G XP_005257918.1
XM_005257862.3 1462 Missense Mutation CGG,GGG R205G XP_005257919.1
XM_017025431.1 1462 Missense Mutation CGG,GGG R205G XP_016880920.1
XM_017025432.1 1462 Missense Mutation CGG,GGG R203G XP_016880921.1

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