Product Details

SNP ID: rs200871086
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:53665347 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CAAAGAGGATGAGAAAGGCTACCAT[C/T]AGACAAAAGAGCCCCATGGCCTCCG
Phenotype: MIM: 603193
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: ATP5G2 PubMed Links

Gene Details

Gene: ATP5G2
Gene Name: ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002031.2	708	Silent Mutation	CTA,CTG	L147L	NP_001002031.1
NM_005176.5	708	Silent Mutation			NP_005167.2
XM_017019460.1	708	Silent Mutation	CTA,CTG	L188L	XP_016874949.1
XM_017019461.1	708	Silent Mutation	CTA,CTG	L147L	XP_016874950.1
XM_017019462.1	708	Silent Mutation	CTA,CTG	L131L	XP_016874951.1