Product Details

SNP ID

rs2283722

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.X:18442160 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

AGCCTCTCAGGCTTAGCTGCTGCCC[A/G]CCCCCAGGTTTGCATCACAATGAGC

Phenotype

MIM: 300203

Polymorphism

A/G, Transition 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		Intron			NP_001032420.1
NM_001323289.1		Intron			NP_001310218.1
NM_003159.2		Intron			NP_003150.1

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