Product Details

SNP ID

rs34230945

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42844639 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCAGCATCCACCATGCATCTCAAG[A/G]TAGTCCTGGCGTTCCTGGCACTGTC

Phenotype

MIM: 602268 MIM: 603735 MIM: 605129

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AOC2 PubMed Links

Gene Details

Gene

AOC2

Gene Name

amine oxidase, copper containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001158.3	48	Missense Mutation	ATA,GTA	I5V	NP_001149.2
NM_009590.2	48	Missense Mutation	ATA,GTA	I5V	NP_033720.2

Gene

AOC3

Gene Name

amine oxidase, copper containing 3

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	48	Intron			NP_001253974.1
NM_005789.3	48	Intron			NP_005780.2
NM_176863.2	48	Intron			NP_789839.1
XM_011524177.2	48	Intron			XP_011522479.1

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