Product Details

SNP ID

rs199575714

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:45328055 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGCAGATCCGAGCTGCAGGGCAC[C/G]AGCCTCATCTGCTTGCTCGACAGGG

Phenotype

MIM: 604933

Polymorphism

C/G, Transversion 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	1183	Missense Mutation	CAG,GAG	Q303E	NP_116145.1

Gene

MUTYH

Gene Name

mutY DNA glycosylase

There are no transcripts associated with this gene.

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