Product Details

SNP ID
rs145981161
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53669272 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGTGTCGATGTCCCTTGAAATGG[C/T]GCTGGTTTGGAAGCTGCGGCTAGAG
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_001002031.2 502 Missense Mutation ACC,GCC T79A NP_001002031.1
NM_005176.5 502 Missense Mutation NP_005167.2
XM_017019460.1 502 Missense Mutation ACC,GCC T120A XP_016874949.1
XM_017019461.1 502 Missense Mutation ACC,GCC T79A XP_016874950.1
XM_017019462.1 502 Missense Mutation ACC,GCC T63A XP_016874951.1

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