Product Details

SNP ID

rs148936216

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:17248980 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTATTATATTTTTCAGGGTTATC[A/C]TGGAAACTGACCATACCGTCCTTCT

Phenotype

MIM: 604665

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

COPS3 PubMed Links

Additional Information

For this assay, SNP(s) [rs553573176] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

COPS3

Gene Name

COP9 signalosome subunit 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199125.1	1058	Missense Mutation	CAG,CAT	Q341H	NP_001186054.1
NM_001316354.1	1058	Missense Mutation	CAG,CAT	Q231H	NP_001303283.1
NM_001316355.1	1058	Missense Mutation	CAG,CAT	Q303H	NP_001303284.1
NM_001316356.1	1058	Missense Mutation	CAG,CAT	Q294H	NP_001303285.1
NM_001316357.1	1058	Missense Mutation	CAG,CAT	Q256H	NP_001303286.1
NM_001316358.1	1058	Missense Mutation	CAG,CAT	Q256H	NP_001303287.1
NM_003653.3	1058	Missense Mutation	CAG,CAT	Q361H	NP_003644.2
XM_005256837.4	1058	Missense Mutation	CAG,CAT	Q341H	XP_005256894.1
XM_005256840.3	1058	Missense Mutation	CAG,CAT	Q231H	XP_005256897.1
XM_005256842.4	1058	Missense Mutation	CAG,CAT	Q231H	XP_005256899.1
XM_017025246.1	1058	Missense Mutation	CAG,CAT	Q256H	XP_016880735.1

View Full Product Details