Product Details

SNP ID

rs144757190

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:131651879 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGAAACAAGACTGGAAACCAATA[C/T]TTCCTTTCCCAATTTATTATCTGTC

Phenotype

MIM: 610594

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FNIP1 PubMed Links

Gene Details

Gene

FNIP1

Gene Name

folliculin interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008738.2	3287	Missense Mutation	ATA,GTA	I1049V	NP_001008738.2
NM_133372.2	3287	Missense Mutation	ATA,GTA	I1077V	NP_588613.2

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