Product Details

SNP ID: rs185831561
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.4:70688857 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATGAGGCACGATCCCGGGCCGCCTT[A/T]GCTAAGGGCTGGAATGAAGTACAGA
Phenotype: MIM: 611614
Polymorphism: A/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	379	Missense Mutation	TTA,TTT	L60F	NP_065101.1