Product Details

SNP ID
rs200996880
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:54100483 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCCCATTGGTGATGTCCGTGTCC[C/G]GCCCCGGCTGCCCGTCCCGCAAGAG
Phenotype
MIM: 616253
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
GSX2 PubMed Links

Gene Details

Gene
GSX2
Gene Name
GS homeobox 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_133267.2 403 Missense Mutation CGC,GGC R47G NP_573574.1

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