Product Details

SNP ID
rs141724839
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53665367 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCATCAGACAAAAGAGCCCCATGG[C/T]CTCCGAGAGGGCAAAGCCCAGAATG
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_001002031.2 688 Missense Mutation ACC,GCC T141A NP_001002031.1
NM_005176.5 688 Missense Mutation NP_005167.2
XM_017019460.1 688 Missense Mutation ACC,GCC T182A XP_016874949.1
XM_017019461.1 688 Missense Mutation ACC,GCC T141A XP_016874950.1
XM_017019462.1 688 Missense Mutation ACC,GCC T125A XP_016874951.1

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