Product Details

SNP ID
rs12881649
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:50330113 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACGGTAGTTAAGTTTCTTGGTATC[A/C]CAGTAGTACTTCTTATTATCCAAAG
Phenotype
MIM: 603441
Polymorphism
A/C, Transversion 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 1404 Intron NP_001269165.1
NM_004196.4 1404 Missense Mutation TGG,TGT W346C NP_004187.2
XM_005268157.2 1404 Missense Mutation TGG,TGT W346C XP_005268214.1
XM_005268159.2 1404 Missense Mutation TGG,TGT W289C XP_005268216.1
XM_005268160.4 1404 Missense Mutation TGG,TGT W232C XP_005268217.1
XM_011537276.1 1404 Missense Mutation TGG,TGT W296C XP_011535578.1
XM_017021729.1 1404 Missense Mutation TGG,TGT W346C XP_016877218.1
XM_017021730.1 1404 Missense Mutation TGG,TGT W289C XP_016877219.1
XM_017021731.1 1404 Missense Mutation TGG,TGT W289C XP_016877220.1
XM_017021732.1 1404 UTR 3 XP_016877221.1

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