Product Details

SNP ID
rs202034681
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:50332294 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTCTGTAAAGCAGTGGTGCTTTC[A/G]GCTCTTTCTTAGGGTCTTCCTTGTT
Phenotype
MIM: 603441
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)
There are no transcripts associated with this gene.

Gene
CDKL1
Gene Name
cyclin dependent kinase like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282236.1 1842 UTR 3 NP_001269165.1
NM_004196.4 1842 Nonsense Mutation CGA,TGA R313* NP_004187.2
XM_005268157.2 1842 Nonsense Mutation CGA,TGA R313* XP_005268214.1
XM_005268159.2 1842 Intron XP_005268216.1
XM_005268160.4 1842 Nonsense Mutation CGA,TGA R199* XP_005268217.1
XM_011537276.1 1842 Nonsense Mutation CGA,TGA R263* XP_011535578.1
XM_017021729.1 1842 Nonsense Mutation CGA,TGA R313* XP_016877218.1
XM_017021730.1 1842 Intron XP_016877219.1
XM_017021731.1 1842 Intron XP_016877220.1
XM_017021732.1 1842 UTR 3 XP_016877221.1

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