Product Details

SNP ID

rs144041308

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:202335691 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTCTTTATCTTGCCAACATGTGA[C/T]GCCTGGGGGTGGCTCTGTGGCTAAC

Phenotype

MIM: 610538

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

UBE2T PubMed Links

Gene Details

Gene

UBE2T

Gene Name

ubiquitin conjugating enzyme E2 T

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001310326.1	200	UTR 5			NP_001297255.1
NM_014176.3	200	Missense Mutation	ATC,GTC	I22V	NP_054895.1

View Full Product Details