Product Details

SNP ID
rs199661980
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:231791749 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCTTCAGCTTGCGGAAGGAGCTA[A/G]TGCTGCTTATTTGCAGTTGTTGAAC
Phenotype
MIM: 616010
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_001282949.2 351 Missense Mutation AAT,AGT N26S NP_001269878.1
NM_001282950.2 351 Missense Mutation AAT,AGT N60S NP_001269879.1
NM_001282951.2 351 Intron NP_001269880.1
NM_001282952.2 351 Intron NP_001269881.1
NM_001308381.1 351 Missense Mutation AAT,AGT N60S NP_001295310.1
NM_022730.3 351 Missense Mutation AAT,AGT N60S NP_073567.1
XM_006712693.1 351 Missense Mutation AAT,AGT N60S XP_006712756.1
XM_011511638.1 351 UTR 5 XP_011509940.1
XM_011511639.1 351 Intron XP_011509941.1
XM_011511640.1 351 Intron XP_011509942.1
XM_017004716.1 351 Missense Mutation AAT,AGT N60S XP_016860205.1
XM_017004717.1 351 Intron XP_016860206.1

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