Product Details

SNP ID

rs116119975

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:45328052 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGAGGCAGATCCGAGCTGCAGGG[C/T]ACGAGCCTCATCTGCTTGCTCGACA

Phenotype

MIM: 604933

Polymorphism

C/T, 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	1180	Missense Mutation	CAC,TAC	H302Y	NP_116145.1

Gene

MUTYH

Gene Name

mutY DNA glycosylase

There are no transcripts associated with this gene.

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