Product Details

SNP ID
rs1131704
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:672519 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCACTCACTTTAATATGCTGTCA[C/T]CTTGGGCCGGAAGGTTAGAAGAAAA
Phenotype
MIM: 601519 MIM: 160782 MIM: 180072
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ATP5I PubMed Links

Gene Details

Gene
ATP5I
Gene Name
ATP synthase, H+ transporting, mitochondrial Fo complex subunit E
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007100.3 282 Missense Mutation GAT,GGT D64G NP_009031.1
Gene
MFSD7
Gene Name
major facilitator superfamily domain containing 7
There are no transcripts associated with this gene.

Gene
MYL5
Gene Name
myosin light chain 5
There are no transcripts associated with this gene.

Gene
PDE6B
Gene Name
phosphodiesterase 6B
There are no transcripts associated with this gene.

View Full Product Details