Product Details

SNP ID: rs11545713
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:175179145 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCTACTGTTGCAGCACCTGCACCAA[A/T]AAATTTGGCAGCAGTATCAATGTCT
Phenotype: MIM: 602736
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: ATP5G3 PubMed Links

Gene Details

Gene: ATP5G3
Gene Name: ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002258.4	406	Missense Mutation	ATT,TTT	I76F	NP_001002258.1
NM_001190329.1	406	Missense Mutation	ATT,TTT	I76F	NP_001177258.1
NM_001689.4	406	Missense Mutation	ATT,TTT	I76F	NP_001680.1