Product Details

SNP ID

rs72616065

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:18442421 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACATGGTCGTCTCCTCTCTCCCTT[C/T]AGGTACTCTCCTTAGTTTTTGAGCC

Phenotype

MIM: 300203

Polymorphism

C/T, 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	85	UTR 5			NP_001032420.1
NM_001323289.1	85	Intron			NP_001310218.1
NM_003159.2	85	Intron			NP_003150.1

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