Product Details

SNP ID
rs114489130
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:231789657 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTCTTGGTGGTGGCGATTTGCATA[C/T]AGGAGGTGGTTTGCTTTTGTTGGGC
Phenotype
MIM: 616010 MIM: 602676
Polymorphism
C/T, 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_001282949.2 258 Intron NP_001269878.1
NM_001282950.2 258 Intron NP_001269879.1
NM_001282951.2 258 Intron NP_001269880.1
NM_001282952.2 258 Intron NP_001269881.1
NM_001308381.1 258 Intron NP_001295310.1
NM_022730.3 258 Intron NP_073567.1
XM_006712693.1 258 Intron XP_006712756.1
XM_011511638.1 258 UTR 5 XP_011509940.1
XM_011511639.1 258 Intron XP_011509941.1
XM_011511640.1 258 Intron XP_011509942.1
XM_017004716.1 258 Intron XP_016860205.1
XM_017004717.1 258 Intron XP_016860206.1
Gene
PDE6D
Gene Name
phosphodiesterase 6D
There are no transcripts associated with this gene.

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