Product Details

SNP ID

rs2270400

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:17202626 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATAACTGACCCGAAGTAACAGAA[A/C]TTTCCCTTTCCTAACCTTCTTTAGT

Phenotype

MIM: 607273 MIM: 612935 MIM: 614960

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

FLCN PubMed Links

Additional Information

For this assay, SNP(s) [rs75836479] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	946	UTR 3			NP_849158.2
XM_017024310.1	946	UTR 3			XP_016879799.1

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