Product Details

SNP ID

rs200343185

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:10141966 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTCGGGCGCCGAGGAGTCCGGCC[C/T]GGAAGAGTCCGGCCCGGAGGAACTG

Phenotype

MIM: 608537

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

VHL PubMed Links

Gene Details

Gene

VHL

Gene Name

von Hippel-Lindau tumor suppressor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000551.3	332	Missense Mutation	CCG,CTG	P40L	NP_000542.1
NM_198156.2	332	Missense Mutation	CCG,CTG	P40L	NP_937799.1

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