Product Details

SNP ID
rs4093817
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:195726089 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGTCAGCTGCACCTGATGCCACG[A/G]TTGGGACCCCACTCCCCACTAACAG
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 1612 Missense Mutation ATT,GTT I496V NP_001269435.1
NM_001291833.1 1612 Missense Mutation ATT,GTT I322V NP_001278762.1
NM_020790.1 1612 Silent Mutation ACA,ACG T343T NP_065841.1
NM_152673.3 1612 Missense Mutation ATT,GTT I325V NP_689886.3

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