Product Details

SNP ID

rs3178259

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:152971174 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTTAATAAGAGATCACAATCTTC[A/G]TAAATTCTTTTTGCTTTTCTTTGTA

Phenotype

MIM: 606013

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FBXO5 PubMed Links

Gene Details

Gene

FBXO5

Gene Name

F-box protein 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142522.1	1442	Nonsense Mutation	CGA,TGA	R399*	NP_001135994.1
NM_012177.3	1442	Nonsense Mutation	CGA,TGA	R445*	NP_036309.1

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