Product Details

SNP ID

rs1802452

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:49129506 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAATAAAAGGAATATGTATTCTTG[A/T]GTAAGGCTTAATTAATTTTATAAGC

Phenotype

MIM: 604508

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

COPS2 PubMed Links

Gene Details

Gene

COPS2

Gene Name

COP9 signalosome subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143887.1	1199	Missense Mutation	ACA,TCA	T374S	NP_001137359.1
NM_004236.3	1199	Missense Mutation	ACA,TCA	T367S	NP_004227.1

View Full Product Details