Product Details

SNP ID
rs185557932
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:196137538 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAAACCATGCTGCTATCCTCTGGG[A/T]TATTCTCTTTGTCTTCTCTATCACC
Phenotype
MIM: 604727
Polymorphism
A/T, Transversion 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 1352 Missense Mutation AAC,ATC N343I NP_004217.1
XM_011512168.2 1352 Missense Mutation AAC,ATC N343I XP_011510470.1
XM_011512169.1 1352 Missense Mutation AAC,ATC N343I XP_011510471.1
XM_011512170.1 1352 Missense Mutation AAC,ATC N343I XP_011510472.1
XM_011512171.2 1352 Missense Mutation AAC,ATC N215I XP_011510473.1

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