Product Details

SNP ID

rs9323183

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:50330163 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCTGGAAGGATGCTGCTGCCAGTTA[C/G]CTGGGGTAGGTACTGCAACTAAAAA

Phenotype

MIM: 603441

Polymorphism

C/G, 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	1354	Intron			NP_001269165.1
NM_004196.4	1354	Missense Mutation	CTA,GTA	L330V	NP_004187.2
XM_005268157.2	1354	Missense Mutation	CTA,GTA	L330V	XP_005268214.1
XM_005268159.2	1354	Missense Mutation	CTA,GTA	L273V	XP_005268216.1
XM_005268160.4	1354	Missense Mutation	CTA,GTA	L216V	XP_005268217.1
XM_011537276.1	1354	Missense Mutation	CTA,GTA	L280V	XP_011535578.1
XM_017021729.1	1354	Missense Mutation	CTA,GTA	L330V	XP_016877218.1
XM_017021730.1	1354	Missense Mutation	CTA,GTA	L273V	XP_016877219.1
XM_017021731.1	1354	Missense Mutation	CTA,GTA	L273V	XP_016877220.1
XM_017021732.1	1354	UTR 3			XP_016877221.1

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