Product Details

SNP ID

rs187260473

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:38938664 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTCTTTCTTTCCACTGGAGTGCT[A/T]AAGACTTTGCAGACTTTTTGCATCA

Phenotype

MIM: 609498

Polymorphism

A/T, 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	1254	Silent Mutation	TTA,TTT	L384F	NP_001008777.2
XM_011524865.2	1254	Silent Mutation	TTA,TTT	L358F	XP_011523167.1
XM_011524866.2	1254	Missense Mutation	TTA,TTT	L327F	XP_011523168.1
XM_011524867.2	1254	Intron			XP_011523169.1

Gene

LINC00672

Gene Name

long intergenic non-protein coding RNA 672

There are no transcripts associated with this gene.

View Full Product Details