Product Details

SNP ID: rs199600588
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:42763049 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGGAGCTCTCGTCGCTCACTGGGCC[C/T]TGCCGGCCCCGCGTGAGGCCCAGCA
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	1213	Intron			NP_001269684.1
NM_001282756.1	1213	Intron			NP_001269685.1
NM_020744.3	1213	Intron			NP_065795.1
XM_005264456.2	1213	Intron			XP_005264513.1
XM_005264458.2	1213	Intron			XP_005264515.1
XM_005264459.2	1213	Intron			XP_005264516.1
XM_017004561.1	1213	Intron			XP_016860050.1
XM_017004562.1	1213	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	1213	Silent Mutation	CAA,CAG	Q377Q	NP_683765.1

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