Product Details

SNP ID

rs201128315

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:67045836 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTCTCTTGTAGCTTTGGCAAGT[C/T]TGTCTTCTGATTTTCGGTCATGCGT

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	1227	Missense Mutation	AAA,AGA	K299R	NP_006828.2

View Full Product Details