Product Details

SNP ID

rs4985749

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:17202368 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACCCCAGTCGTGCCACATGGAGAGA[A/G]GGATGAAATCTCAGGGAGATGCTGA

Phenotype

MIM: 607273 MIM: 612935 MIM: 614960

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FLCN PubMed Links

Gene Details

Gene

FLCN

Gene Name

folliculin

There are no transcripts associated with this gene.

Gene

MPRIP

Gene Name

myosin phosphatase Rho interacting protein

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	1204	UTR 3			NP_849158.2
XM_017024310.1	1204	UTR 3			XP_016879799.1

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