Product Details

SNP ID

rs200052722

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:18642082 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTGCCAGCCCAGCGGGATGAGGCG[G/T]ATGAAGCGGGAGATGATGGGGGGCC

Phenotype

MIM: 300203 MIM: 300839

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CDKL5 PubMed Links

Gene Details

Gene

CDKL5

Gene Name

cyclin dependent kinase like 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037343.1	632	Intron			NP_001032420.1
NM_001323289.1	632	Intron			NP_001310218.1
NM_003159.2	632	Intron			NP_003150.1

Gene

RS1

Gene Name

retinoschisin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000330.3	632	Silent Mutation	ATA,ATC	I199I	NP_000321.1

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