Product Details

SNP ID: rs139549167
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.4:70689044 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CGTGCAAAGTGAAGCTGAGGCCTCT[C/G]TGGATCCCAGTTTGTCGTGGGGTCA
Phenotype: MIM: 611614
Polymorphism: C/G, 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	566	Missense Mutation	CTG,GTG	L123V	NP_065101.1