Product Details

SNP ID
rs2278586
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:42762961 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AGAGAGACCTCGCCCTGCACTTTCA[C/G]CTTCCCTATGGCCTCCGCCTTCCTA
Phenotype
MIM: 604521 MIM: 609050
Polymorphism
C/G, Transversion 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 1301 Intron NP_001269684.1
NM_001282756.1 1301 Intron NP_001269685.1
NM_020744.3 1301 Intron NP_065795.1
XM_005264456.2 1301 Intron XP_005264513.1
XM_005264458.2 1301 Intron XP_005264515.1
XM_005264459.2 1301 Intron XP_005264516.1
XM_017004561.1 1301 Intron XP_016860050.1
XM_017004562.1 1301 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 1301 Missense Mutation CTG,GTG L407V NP_683765.1

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