Product Details

SNP ID
rs200338374
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:143916612 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCCTCGTCCAGGGGCACGCGGCC[C/T]GGCGTGTCGGGCTCGATCAAGCCGC
Phenotype
MIM: 601282
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PLEC PubMed Links

Gene Details

Gene
PLEC
Gene Name
plectin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000445.4 13155 Silent Mutation CCA,CCG P4430P NP_000436.2
NM_201378.3 13155 Silent Mutation CCA,CCG P4389P NP_958780.1
NM_201379.2 13155 Silent Mutation CCA,CCG P4381P NP_958781.1
NM_201380.3 13155 Silent Mutation CCA,CCG P4540P NP_958782.1
NM_201381.2 13155 Silent Mutation CCA,CCG P4371P NP_958783.1
NM_201382.3 13155 Silent Mutation CCA,CCG P4403P NP_958784.1
NM_201383.2 13155 Silent Mutation CCA,CCG P4407P NP_958785.1
NM_201384.2 13155 Silent Mutation CCA,CCG P4403P NP_958786.1
XM_005250976.3 13155 Silent Mutation CCA,CCG P4545P XP_005251033.1
XM_005250978.3 13155 Silent Mutation CCA,CCG P4412P XP_005251035.1
XM_005250979.4 13155 Silent Mutation CCA,CCG P4408P XP_005251036.1
XM_005250980.4 13155 Silent Mutation CCA,CCG P4408P XP_005251037.1
XM_005250981.3 13155 Silent Mutation CCA,CCG P4394P XP_005251038.1
XM_005250982.3 13155 Silent Mutation CCA,CCG P4386P XP_005251039.1
XM_005250983.2 13155 Silent Mutation CCA,CCG P4380P XP_005251040.1
XM_005250984.4 13155 Silent Mutation CCA,CCG P4376P XP_005251041.1
XM_006716588.3 13155 Silent Mutation CCA,CCG P4435P XP_006716651.1
XM_006716589.2 13155 Silent Mutation CCA,CCG P4385P XP_006716652.1
XM_006716590.3 13155 Silent Mutation CCA,CCG P4385P XP_006716653.1
XM_011517130.2 13155 Silent Mutation CCA,CCG P4408P XP_011515432.1
XM_011517131.2 13155 Silent Mutation CCA,CCG P4380P XP_011515433.1
XM_011517132.2 13155 Silent Mutation CCA,CCG P3285P XP_011515434.1

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