Product Details

SNP ID
rs111033559
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:118558946 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGGAGAAAGTCCAATACCTCACT[C/T]GCTCAGCTATAAGAAGAGCCTCAAC
Phenotype
MIM: 172405
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CEP85L PubMed Links

Gene Details

Gene
CEP85L
Gene Name
centrosomal protein 85 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042475.2 252 Intron NP_001035940.1
NM_001178035.1 252 Intron NP_001171506.1
NM_206921.2 252 Intron NP_996804.2
XM_005266970.1 252 Intron XP_005267027.1
XM_005266971.1 252 Intron XP_005267028.1
XM_005266972.4 252 Intron XP_005267029.1
XM_006715475.3 252 Intron XP_006715538.1
XM_011535809.2 252 Intron XP_011534111.1
XM_011535810.2 252 Intron XP_011534112.1
XM_011535811.1 252 Intron XP_011534113.1
XM_017010846.1 252 Intron XP_016866335.1
XM_017010847.1 252 Intron XP_016866336.1
Gene
PLN
Gene Name
phospholamban
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002667.4 252 Missense Mutation CGC,TGC R9C NP_002658.1

View Full Product Details