Product Details

SNP ID
rs145623013
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:118558948 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAGAAAGTCCAATACCTCACTCG[C/T]TCAGCTATAAGAAGAGCCTCAACCA
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_001042475.2 254 Intron NP_001035940.1
NM_001178035.1 254 Intron NP_001171506.1
NM_206921.2 254 Intron NP_996804.2
XM_005266970.1 254 Intron XP_005267027.1
XM_005266971.1 254 Intron XP_005267028.1
XM_005266972.4 254 Intron XP_005267029.1
XM_006715475.3 254 Intron XP_006715538.1
XM_011535809.2 254 Intron XP_011534111.1
XM_011535810.2 254 Intron XP_011534112.1
XM_011535811.1 254 Intron XP_011534113.1
XM_017010846.1 254 Intron XP_016866335.1
XM_017010847.1 254 Intron XP_016866336.1
Gene
PLN
Gene Name
phospholamban
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002667.4 254 Silent Mutation CGC,CGT R9R NP_002658.1

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