Product Details

SNP ID
rs189122036
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:119418099 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTGTGTTCGATGGGGTCATCTAC[C/T]GCAGTGGAGAGAAATTTCAGCCAAG
Phenotype
MIM: 164958
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NOV PubMed Links

Gene Details

Gene
NOV
Gene Name
nephroblastoma overexpressed
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002514.3 573 Missense Mutation CGC,TGC R118C NP_002505.1

View Full Product Details