Product Details

SNP ID

rs186327050

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:17203081 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATGCATGTAGCCTGGGTCTTGAT[C/G]GTGCCGGACCTGGATCCCTGCAGAA

Phenotype

MIM: 607273 MIM: 614960

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

FLCN PubMed Links

Gene Details

Gene

FLCN

Gene Name

folliculin

There are no transcripts associated with this gene.

Gene

PLD6

Gene Name

phospholipase D family member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178836.3	491	Missense Mutation	CAT,GAT	H149D	NP_849158.2
XM_017024310.1	491	Silent Mutation	ACC,ACG	T147T	XP_016879799.1

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