Product Details

SNP ID
rs138005379
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:178613635 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAAACCATTCTAGCATCTGGACAC[A/G]TCGGCTAAAACAGAGCAAAATAATA
Phenotype
MIM: 607969
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CLK4 PubMed Links

Gene Details

Gene
CLK4
Gene Name
CDC like kinase 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020666.2 772 Missense Mutation CGT,TGT R222C NP_065717.1

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