Product Details

SNP ID
rs11682745
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:231789742 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GCTGTTGGCTCCACACCCACAGTCA[A/G]TTTTAACAGGAGTTTCAGTGAATCA
Phenotype
MIM: 616010 MIM: 602676
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COPS7B PubMed Links

Gene Details

Gene
COPS7B
Gene Name
COP9 signalosome subunit 7B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282949.2 343 Intron NP_001269878.1
NM_001282950.2 343 Intron NP_001269879.1
NM_001282951.2 343 Intron NP_001269880.1
NM_001282952.2 343 Intron NP_001269881.1
NM_001308381.1 343 Intron NP_001295310.1
NM_022730.3 343 Intron NP_073567.1
XM_006712693.1 343 Intron XP_006712756.1
XM_011511638.1 343 UTR 5 XP_011509940.1
XM_011511639.1 343 Intron XP_011509941.1
XM_011511640.1 343 Intron XP_011509942.1
XM_017004716.1 343 Intron XP_016860205.1
XM_017004717.1 343 Intron XP_016860206.1
Gene
PDE6D
Gene Name
phosphodiesterase 6D
There are no transcripts associated with this gene.

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