Product Details

SNP ID

rs76854113

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:17208044 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAAAAACAGTACTCACATGTGCTA[C/T]GACGTGGATGAATTTCATTAATATT

Phenotype

MIM: 607273 MIM: 614960

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

FLCN PubMed Links

Additional Information

For this assay, SNP(s) [rs35534690] 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144606.5		Intron			NP_653207.1
NM_144997.5		Intron			NP_659434.2
XM_011523714.2		Intron			XP_011522016.1
XM_011523716.1		Intron			XP_011522018.1
XM_011523718.2		Intron			XP_011522020.1
XM_011523719.2		Intron			XP_011522021.1
XM_011523721.2		Intron			XP_011522023.1
XM_017024304.1		Intron			XP_016879793.1
XM_017024305.1		Intron			XP_016879794.1
XM_017024306.1		Intron			XP_016879795.1
XM_017024307.1		Intron			XP_016879796.1
XM_017024308.1		Intron			XP_016879797.1
XM_017024309.1		Intron			XP_016879798.1

Gene

PLD6

Gene Name

phospholipase D family member 6

There are no transcripts associated with this gene.

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