Product Details

SNP ID
rs201748815
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:67058143 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGCATCTGAGTACTAACATCAAT[C/T]CCAGAAAGCCAGCAGCCATAGCCAG
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_006837.2 778 Silent Mutation GGA,GGG G149G 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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