Product Details

SNP ID
rs201867992
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:195726056 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTGCCGAGACCCTGTCCACAGCC[A/G]GCACCACAGAGTCAGCTGCACCTGA
Phenotype
MIM: 610360
Polymorphism
A/G, 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 1579 Missense Mutation AGC,GGC S485G NP_001269435.1
NM_001291833.1 1579 Missense Mutation AGC,GGC S311G NP_001278762.1
NM_020790.1 1579 Silent Mutation NP_065841.1
NM_152673.3 1579 Missense Mutation AGC,GGC S314G NP_689886.3

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