Product Details

SNP ID
rs190627464
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:45285960 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCAGCTGTGAACCTGCAGCCCCA[A/G]CTGGCCAGTGTGACTTTCGCCACCA
Phenotype
MIM: 611559
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
UPK3A PubMed Links

Gene Details

Gene
UPK3A
Gene Name
uroplakin 3A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001167574.1 99 Silent Mutation CAA,CAG Q24Q NP_001161046.1
NM_006953.3 99 Silent Mutation CAA,CAG Q24Q NP_008884.1

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