Product Details

SNP ID

rs34249643

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:7883637 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGGATTTTTCCTCACCAATGTCT[C/T]GTCGATGACTTTCACATTCTGGCAC

Phenotype

MIM: 605023

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HAO1 PubMed Links

Gene Details

Gene

HAO1

Gene Name

hydroxyacid oxidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017545.2	1093	Missense Mutation	AAG,GAG	K357E	NP_060015.1

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