Product Details

SNP ID

rs61738638

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:17203007 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTCTGGATGGCTTGCGTGGTCCA[G/T]TTGAGCGAGCCAGTGATGAGCACCC

Phenotype

MIM: 607273 MIM: 614960

Polymorphism

G/T, 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	565	Missense Mutation	AAA,AAC	K173N	NP_849158.2
XM_017024310.1	565	Missense Mutation	AAT,ACT	N172T	XP_016879799.1

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