Product Details

SNP ID
rs201857816
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:195729678 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGGAGGTTTCCTCCTCCTGCGGC[C/T]GAGTGTGGCTTCCCCGGAAGACCTC
Phenotype
MIM: 610360
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MUC20 PubMed Links

Gene Details

Gene
MUC20
Gene Name
mucin 20, cell surface associated
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282506.1 2126 Missense Mutation CCG,CTG P667L NP_001269435.1
NM_001291833.1 2126 Missense Mutation CCG,CTG P493L NP_001278762.1
NM_020790.1 2126 Missense Mutation CCG,CTG P513L NP_065841.1
NM_152673.3 2126 Missense Mutation CCG,CTG P496L NP_689886.3

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