Product Details

SNP ID

rs141173116

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:118957612 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCACAAAAGCATTTCCTACCTAG[C/T]GAAGAAGGGGACAGCCACTGAGTCC

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	415	Missense Mutation	GCG,GTG	A121V	NP_006751.1

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