Product Details

SNP ID
rs201771523
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:1233546 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCAGGCGGGTGAGGAACTGCAGAA[C/T]GGTACCTGCCCCGGATCCCGGGCCC
Phenotype
MIM: 603150 MIM: 602216
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP5D PubMed Links

Gene Details

Gene
ATP5D
Gene Name
ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit
There are no transcripts associated with this gene.

Gene
CBARP
Gene Name
CACN beta subunit associated regulatory protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152769.2 1537 Missense Mutation ATT,GTT I287V NP_689982.3
XM_017026555.1 1537 Missense Mutation ATT,GTT I409V XP_016882044.1
XM_017026556.1 1537 Missense Mutation ATT,GTT I287V XP_016882045.1
XM_017026557.1 1537 Missense Mutation ATT,GTT I109V XP_016882046.1
XM_017026558.1 1537 Missense Mutation ATT,GTT I109V XP_016882047.1
XM_017026559.1 1537 Missense Mutation ATT,GTT I409V XP_016882048.1
XM_017026560.1 1537 Intron XP_016882049.1
XM_017026561.1 1537 Intron XP_016882050.1
XM_017026562.1 1537 Intron XP_016882051.1
Gene
STK11
Gene Name
serine/threonine kinase 11
There are no transcripts associated with this gene.

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