Product Details

SNP ID

rs145188676

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:38942842 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTCCATTCACAGCTTTACTAGCC[A/G]TGAAACTGAAACAGATGTTGTTTCC

Phenotype

MIM: 609498

Polymorphism

A/G, Transition 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	1292	Missense Mutation	ACG,ATG	T340M	NP_001008777.2
XM_011524865.2	1292	Missense Mutation	ACG,ATG	T314M	XP_011523167.1
XM_011524866.2	1292	Missense Mutation	ACG,ATG	T283M	XP_011523168.1
XM_011524867.2	1292	Missense Mutation	ACG,ATG	T340M	XP_011523169.1

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