Product Details

SNP ID

rs1800004

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:18642013 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGCTGAGGCAGGCATCAGGCACA[C/G]TTGCTGACGCACTCCAGCAGCTCCA

Phenotype

MIM: 300203 MIM: 300839

Polymorphism

C/G, 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	701	Intron			NP_001032420.1
NM_001323289.1	701	Intron			NP_001310218.1
NM_003159.2	701	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	701	Missense Mutation	AAC,AAG	N222K	NP_000321.1

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