Product Details

SNP ID

rs5030803

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:10142068 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGAACTCGCGCGAGCCCTCCCAGG[G/T]CATCTTCTGCAATCGCAGTCCGCGC

Phenotype

MIM: 608537

Polymorphism

G/T, Transversion 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	434	Missense Mutation	GGC,GTC	G74V	NP_000542.1
NM_198156.2	434	Missense Mutation	GGC,GTC	G74V	NP_937799.1

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