Product Details

SNP ID

hCV27530989

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:88008289 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCCCCCTGGAAGGGCAGCCGCCC[C/T]GAGTGGCCTGGGCGGAGAGGCTGGT

Phenotype

MIM: 173910

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PKD2 PubMed Links

Gene Details

Gene

PKD2

Gene Name

polycystin 2, transient receptor potential cation channel

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000297.3	643	Nonsense Mutation	CGA,TGA	R186*	NP_000288.1

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