Product Details

SNP ID

hCV89908219

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:42762949 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTCCTTTTCCAGAGAGACCTCGC[C/G]CTGCACTTTCAGCTTCCCTATGGCC

Phenotype

MIM: 604521 MIM: 609050

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

HAAO PubMed Links

Additional Information

For this assay, SNP(s) [rs79735204] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

HAAO

Gene Name

3-hydroxyanthranilate 3,4-dioxygenase

There are no transcripts associated with this gene.

Gene

MTA3

Gene Name

metastasis associated 1 family member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282755.1	1313	Intron			NP_001269684.1
NM_001282756.1	1313	Intron			NP_001269685.1
NM_020744.3	1313	Intron			NP_065795.1

Gene

OXER1

Gene Name

oxoeicosanoid receptor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_148962.4	1313	Missense Mutation	CGC,GGC	R411G	NP_683765.1

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