Product Details

SNP ID: rs145274773
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:42763002 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CGCCTTCCTAGAGGCCTCCCGGTAG[C/T]GCCACTGCCTGGAGGGTTGGTAGGA
Phenotype: MIM: 604521 MIM: 609050
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: HAAO PubMed Links

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	1260	Intron			NP_001269684.1
NM_001282756.1	1260	Intron			NP_001269685.1
NM_020744.3	1260	Intron			NP_065795.1
XM_005264456.2	1260	Intron			XP_005264513.1
XM_005264458.2	1260	Intron			XP_005264515.1
XM_005264459.2	1260	Intron			XP_005264516.1
XM_017004561.1	1260	Intron			XP_016860050.1
XM_017004562.1	1260	Intron			XP_016860051.1

Gene: OXER1
Gene Name: oxoeicosanoid receptor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_148962.4	1260	Missense Mutation	CAC,CGC	H393R	NP_683765.1

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