Product Details

SNP ID
rs149343680
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:231781811 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACCCAACGGGAAGACCCTTCTCA[A/C]CCTCAAAAGAAGATGACAGCCCGCA
Phenotype
MIM: 616010 MIM: 602676
Polymorphism
A/C, Transversion 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_001282949.2 118 UTR 5 NP_001269878.1
NM_001282950.2 118 Intron NP_001269879.1
NM_001282951.2 118 UTR 5 NP_001269880.1
NM_001282952.2 118 Intron NP_001269881.1
NM_001308381.1 118 Intron NP_001295310.1
NM_022730.3 118 Intron NP_073567.1
XM_006712693.1 118 UTR 5 XP_006712756.1
XM_011511638.1 118 Intron XP_011509940.1
XM_011511639.1 118 Intron XP_011509941.1
XM_011511640.1 118 UTR 5 XP_011509942.1
XM_017004716.1 118 UTR 5 XP_016860205.1
XM_017004717.1 118 UTR 5 XP_016860206.1
Gene
PDE6D
Gene Name
phosphodiesterase 6D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291018.1 118 Intron NP_001277947.1
NM_002601.3 118 Intron NP_002592.1
XM_011511342.1 118 Intron XP_011509644.1

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