Product Details

SNP ID
rs112132636
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:118958110 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTTTTGACAGGAAGGAACATGGA[A/G]TCCATTGGGCTGGGTATGGCCCGCA
Phenotype
MIM: 611558
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
UPK2 PubMed Links

Gene Details

Gene
UPK2
Gene Name
uroplakin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006760.3 485 Silent Mutation GAA,GAG E144E NP_006751.1

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