Product Details

SNP ID

rs138019004

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:67043260 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGAGATGTTAATTTGATTAAACAG[C/T]TTATCCTTAATAACCTGAGACATCA

Phenotype

MIM: 604850

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COPS5 PubMed Links

Gene Details

Gene

COPS5

Gene Name

COP9 signalosome subunit 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006837.2	1309	Silent Mutation	AAA,AAG	K326K	NP_006828.2

View Full Product Details