Product Details

SNP ID

rs148926547

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:38943728 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTCTTCTATCATTTCCTGCCAAA[A/C]CACCTGTCCTGAATTGAAACAAAAA

Phenotype

MIM: 609498

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

FBXO47 PubMed Links

Gene Details

Gene

FBXO47

Gene Name

F-box protein 47

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008777.2	1075	Missense Mutation	GTT,TTT	V268F	NP_001008777.2
XM_011524865.2	1075	Missense Mutation	GTT,TTT	V242F	XP_011523167.1
XM_011524866.2	1075	Missense Mutation	GTT,TTT	V211F	XP_011523168.1
XM_011524867.2	1075	Missense Mutation	GTT,TTT	V268F	XP_011523169.1

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