Product Details

SNP ID

rs143738729

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:17248942 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGTTTACCTCCTGATCAATGTTA[A/T]GAAGCATGGCTGGGTTATTATATTT

Phenotype

MIM: 604665

Polymorphism

A/T, 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	1096	Missense Mutation	CAT,CTT	H354L	NP_001186054.1
NM_001316354.1	1096	Missense Mutation	CAT,CTT	H244L	NP_001303283.1
NM_001316355.1	1096	Missense Mutation	CAT,CTT	H316L	NP_001303284.1
NM_001316356.1	1096	Missense Mutation	CAT,CTT	H307L	NP_001303285.1
NM_001316357.1	1096	Missense Mutation	CAT,CTT	H269L	NP_001303286.1
NM_001316358.1	1096	Missense Mutation	CAT,CTT	H269L	NP_001303287.1
NM_003653.3	1096	Missense Mutation	CAT,CTT	H374L	NP_003644.2
XM_005256837.4	1096	Missense Mutation	CAT,CTT	H354L	XP_005256894.1
XM_005256840.3	1096	Missense Mutation	CAT,CTT	H244L	XP_005256897.1
XM_005256842.4	1096	Missense Mutation	CAT,CTT	H244L	XP_005256899.1
XM_017025246.1	1096	Missense Mutation	CAT,CTT	H269L	XP_016880735.1

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