Product Details

SNP ID

rs200819255

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:135936729 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGTTCTTCTAGACTGGGGGAGTTT[G/T]CCTCACCATGTAGTATTACAAATTT

Phenotype

MIM: 609087

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

FBXL21 PubMed Links

Gene Details

Gene

FBXL21

Gene Name

F-box and leucine rich repeat protein 21 (gene/pseudogene)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012159.4	617	Missense Mutation	TTG,TTT	L45F	NP_036291.2

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