Product Details

SNP ID: rs1021487491
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:53534126 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTTGCAGGGGTACCTTGGAAGTACC[C/T]GTGACAAACTGGAGGAACTTGGCAC
Phenotype: MIM: 300697
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: HUWE1 PubMed Links

Gene Details

Gene: HUWE1
Gene Name: HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031407.6	13306	Silent Mutation	ACA,ACG	T4301T	NP_113584.3