Product Details

SNP ID
rs2688542
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:195726080 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCACCACAGAGTCAGCTGCACCT[C/G]ATGCCACGGTTGGGACCCCACTCCC
Phenotype
MIM: 610360
Polymorphism
C/G, Transversion 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 1603 Missense Mutation CAT,GAT H493D NP_001269435.1
NM_001291833.1 1603 Missense Mutation CAT,GAT H319D NP_001278762.1
NM_020790.1 1603 Silent Mutation NP_065841.1
NM_152673.3 1603 Missense Mutation CAT,GAT H322D NP_689886.3

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