Product Details

SNP ID

rs143666055

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:49127982 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTTACTGACTACAGCCTGGTTGA[C/G]AGAATTTAGTTGGTTGGTCCATTTA

Phenotype

MIM: 604508

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

COPS2 PubMed Links

Gene Details

Gene

COPS2

Gene Name

COP9 signalosome subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143887.1	1400	Missense Mutation	CTC,GTC	L441V	NP_001137359.1
NM_004236.3	1400	Missense Mutation	CTC,GTC	L434V	NP_004227.1

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