Product Details

SNP ID: rs140266757
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.4:70689192 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAGGCACAGATCATTCAGCGGCGCC[G/T]AGCCCAAGCGCTGCAAGAGGATGAT
Phenotype: MIM: 611614
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: UTP3 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020368.2	714	Missense Mutation	CGA,CTA	R172L	NP_065101.1