Product Details

SNP ID

rs140379005

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38942715 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGTACTGCTCAAAAGATACGTAGC[A/G]GATGCCCTTGCCAAAGTTGGTGAAG

Phenotype

MIM: 609094 MIM: 603021

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FBXO17 PubMed Links

Gene Details

Gene

FBXO17

Gene Name

F-box protein 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024907.6	862	Missense Mutation	CGC,TGC	R244C	NP_079183.4
NM_148169.2	862	Missense Mutation	CGC,TGC	R253C	NP_680474.1

Gene

MRPS12

Gene Name

mitochondrial ribosomal protein S12

There are no transcripts associated with this gene.

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