Product Details

SNP ID
rs11923495
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:195729674 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAAAATGGAGGTTTCCTCCTCCTG[C/T]GGCTGAGTGTGGCTTCCCCGGAAGA
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 2122 Missense Mutation CGG,TGG R666W NP_001269435.1
NM_001291833.1 2122 Missense Mutation CGG,TGG R492W NP_001278762.1
NM_020790.1 2122 Missense Mutation CGG,TGG R512W NP_065841.1
NM_152673.3 2122 Missense Mutation CGG,TGG R495W NP_689886.3

View Full Product Details