Product Details

SNP ID

rs148900904

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:131651947 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCACTTGAACAGTCCATTTATCC[A/G]TGTCAGCTATAATACAGACAGCTTC

Phenotype

MIM: 610594

Polymorphism

A/G, 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	3219	Missense Mutation	ACG,ATG	T1026M	NP_001008738.2
NM_133372.2	3219	Missense Mutation	ACG,ATG	T1054M	NP_588613.2

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