Product Details

SNP ID
rs113198138
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:49156014 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCTGACATGCCCGTCCTATATGA[C/T]AGGTATTATTTCTGCTATCATTGTA
Phenotype
MIM: 604508 MIM: 137028
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COPS2 PubMed Links

Gene Details

Gene
COPS2
Gene Name
COP9 signalosome subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143887.1 238 Intron NP_001137359.1
NM_004236.3 238 Intron NP_004227.1
Gene
GALK2
Gene Name
galactokinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001556.2 238 Silent Mutation GAC,GAT D6D NP_001001556.1
NM_001289030.1 238 Intron NP_001275959.1
NM_001289031.1 238 Intron NP_001275960.1
NM_002044.3 238 Intron NP_002035.1
XM_005254279.3 238 Intron XP_005254336.1
XM_005254280.3 238 Silent Mutation GAC,GAT D6D XP_005254337.1
XM_005254284.3 238 Silent Mutation GAC,GAT D6D XP_005254341.1
XM_006720461.3 238 Intron XP_006720524.1
XM_006720462.3 238 Intron XP_006720525.1
XM_006720463.3 238 Intron XP_006720526.1
XM_006720464.3 238 Intron XP_006720527.1
XM_011521441.2 238 Intron XP_011519743.1
XM_017022062.1 238 Intron XP_016877551.1
XM_017022063.1 238 Silent Mutation GAC,GAT D6D XP_016877552.1
XM_017022064.1 238 Intron XP_016877553.1
XM_017022065.1 238 UTR 5 XP_016877554.1
XM_017022066.1 238 Intron XP_016877555.1
Gene
NDUFAF4P1
Gene Name
NADH:ubiquinone oxidoreductase complex assembly factor 4 pseudogene 1
There are no transcripts associated with this gene.

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