Product Details

SNP ID
rs117222182
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:196137566 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTCTTTGTCTTCTCTATCACCAC[A/G]GGTTCCATTACAGGAGGATTTAGAA
Phenotype
MIM: 604727
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
STK17B PubMed Links

Gene Details

Gene
STK17B
Gene Name
serine/threonine kinase 17b
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004226.3 1324 Missense Mutation CGT,TGT R334C NP_004217.1
XM_011512168.2 1324 Missense Mutation CGT,TGT R334C XP_011510470.1
XM_011512169.1 1324 Missense Mutation CGT,TGT R334C XP_011510471.1
XM_011512170.1 1324 Missense Mutation CGT,TGT R334C XP_011510472.1
XM_011512171.2 1324 Missense Mutation CGT,TGT R206C XP_011510473.1

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