Product Details

SNP ID
rs12588912
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:50313970 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACATAAATGTAATTATTGTAATT[A/G]TACAGTATGTAACTTTTATTGACTC
Phenotype
MIM: 609584
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ATP5S PubMed Links

Gene Details

Gene
ATP5S
Gene Name
ATP synthase, H+ transporting, mitochondrial Fo complex subunit s (factor B)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001003803.2 Intron NP_001003803.1
NM_001003805.2 Intron NP_001003805.1
NM_015684.3 Intron NP_056499.2
XM_005267537.3 Intron XP_005267594.1
XM_011536649.2 Intron XP_011534951.1
XM_011536650.2 Intron XP_011534952.1
XM_011536651.2 Intron XP_011534953.1
XM_011536652.1 Intron XP_011534954.1
XM_011536653.2 Intron XP_011534955.1
XM_011536654.2 Intron XP_011534956.1
XM_011536655.2 Intron XP_011534957.1
XM_011536656.2 Intron XP_011534958.1
XM_011536657.2 Intron XP_011534959.1
XM_017021220.1 Intron XP_016876709.1
Gene
L2HGDH
Gene Name
L-2-hydroxyglutarate dehydrogenase
There are no transcripts associated with this gene.

View Full Product Details