Product Details

SNP ID
rs144714035
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:17247095 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGTTTAGCTCAGGATGGATGTTA[A/G]TTTCAAGAATAACTGGATGGTTTGT
Phenotype
MIM: 604665 MIM: 607273
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COPS3 PubMed Links

Gene Details

Gene
COPS3
Gene Name
COP9 signalosome subunit 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199125.1 1250 UTR 3 NP_001186054.1
NM_001316354.1 1250 UTR 3 NP_001303283.1
NM_001316355.1 1250 UTR 3 NP_001303284.1
NM_001316356.1 1250 UTR 3 NP_001303285.1
NM_001316357.1 1250 UTR 3 NP_001303286.1
NM_001316358.1 1250 UTR 3 NP_001303287.1
NM_003653.3 1250 UTR 3 NP_003644.2
XM_005256837.4 1250 UTR 3 XP_005256894.1
XM_005256840.3 1250 UTR 3 XP_005256897.1
XM_005256842.4 1250 UTR 3 XP_005256899.1
XM_017025246.1 1250 UTR 3 XP_016880735.1
Gene
FLCN
Gene Name
folliculin
There are no transcripts associated with this gene.

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