C__27512063_10

• SNP ID: rs3755491
• Gene: ATP5G3
• Gene Name: ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9)
• Set Membership: -
• Chromosome Location: Chr.2: 175180903 - 175180903 on Build GRCh38
• Polymorphism: C/T, Transition substitution
• Context Sequence [VIC/FAM]:

  GGCTCGTTCCCCCACCACCTTCCTC[C/T]GCCCCCACACGGAAAGGCAAAGTCC

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 602736
Literature Links:	ATP5G3 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global T (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS T (0.01) (0.99)	African American - Not Available	YRI (Yoruba) - Not Available
SAS T (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR T (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR T (0.00) (1.00)
AMR T (0.00) (1.00)

ATP5G3 - ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9)
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_001002258.4		Intron			NP_001002258.1
NM_001190329.1		Intron			NP_001177258.1
NM_001689.4		Intron			NP_001680.1

More Information

Panther Classification:

Molecular Function -

ATP synthase

Gene Ontology Categories:

Process(es)

ATP biosynthetic process
aging
ATP hydrolysis coupled proton transport
mitochondrial ATP synthesis coupled proton transport
response to ethanol

Function(s)

transporter activity
lipid binding
hydrogen ion transmembrane transporter activity