Product Details

SNP ID

rs145883476

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:45328017 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCCCCCTGGGGCATACTACCAGC[A/G]GCCAGGAAAGGAGAGGCAGATCCGA

Phenotype

MIM: 604933

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HPDL PubMed Links

Gene Details

Gene

HPDL

Gene Name

4-hydroxyphenylpyruvate dioxygenase like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032756.2	1145	Missense Mutation	CAG,CGG	Q290R	NP_116145.1

Gene

MUTYH

Gene Name

mutY DNA glycosylase

There are no transcripts associated with this gene.

View Full Product Details