Product Details

SNP ID

rs138638780

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:67051297 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCCACAACAGCTCAAGCAATTTG[C/T]GATCCAAAGAGGATTTGAAATATGA

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	1035	Missense Mutation	CAC,CGC	H235R	NP_006828.2

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