Product Details

SNP ID

rs142248628

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:45327729 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTGCCACTTGCCGCTGAGCCCAG[A/G]TGAGGATCCCGAGCTGGGCCTCGAA

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	857	Missense Mutation	GAT,GGT	D194G	NP_116145.1

Gene

MUTYH

Gene Name

mutY DNA glycosylase

There are no transcripts associated with this gene.

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