Product Details

SNP ID
rs142303592
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42838727 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGGTCCTCATATATGTTTTGACCT[C/G]CAGGTCAAAATGTGGGTACAGCTCC
Phenotype
MIM: 602268 MIM: 605129
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
AOC2 PubMed Links

Gene Details

Gene
AOC2
Gene Name
amine oxidase, copper containing 2
There are no transcripts associated with this gene.

Gene
PSME3
Gene Name
proteasome activator subunit 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267045.1 931 Intron NP_001253974.1
NM_005789.3 931 Intron NP_005780.2
NM_176863.2 931 Silent Mutation CTC,CTG L147L NP_789839.1
XM_011524177.2 931 Intron XP_011522479.1

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