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SNP ID

rs199708915

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:67057430 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATTCACTTTCCCTGCGGATATTG[C/T]TCTTGTTGGATCAATCTATAAGAAA

Phenotype

MIM: 604850 MIM: 611654

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	854	Missense Mutation	ACA,GCA	T175A	NP_006828.2

Gene

CSPP1

Gene Name

centrosome and spindle pole associated protein 1

There are no transcripts associated with this gene.

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