Product Details

SNP ID
rs140657826
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:195733202 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCACTTCCAGGTCTCCTTACTGC[A/G]TGTCAGGAGAGGCTAACGGACATCA
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 2240 Missense Mutation CAT,CGT H705R NP_001269435.1
NM_001291833.1 2240 Missense Mutation CAT,CGT H531R NP_001278762.1
NM_020790.1 2240 Missense Mutation CAT,CGT H551R NP_065841.1
NM_152673.3 2240 Missense Mutation CAT,CGT H534R NP_689886.3

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