Product Details

SNP ID

rs143837673

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:118956372 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCATGGCACCCCTGCTGCCCATC[C/T]GGACCTTGCCCTTGATCCTGATTCT

Phenotype

MIM: 611558

Polymorphism

C/T, 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	75	Missense Mutation	CGG,TGG	R8W	NP_006751.1

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