Product Details

SNP ID

rs117691659

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17360825 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGGGCCTTGACACTGGCATCATC[A/G]GCTGCGACTGTGAAAGAAAGATGGA

Phenotype

MIM: 607647

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PLVAP PubMed Links

Gene Details

Gene

PLVAP

Gene Name

plasmalemma vesicle associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031310.2	1248	Missense Mutation	CCG,CTG	P396L	NP_112600.1

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