Product Details

SNP ID

rs28494624

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:134372391 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCCCTGGGCCTCCTTTGGTAAAT[A/G]AAATAGGGTTTTGTTAGGAGGTATT

Phenotype

MIM: 608459 MIM: 179095

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CDKL3 PubMed Links

Gene Details

Gene

CDKL3

Gene Name

cyclin dependent kinase like 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001113575.1		Intron			NP_001107047.1
NM_001300853.1		Intron			NP_001287782.1
NM_016508.3		Intron			NP_057592.2

Gene

UBE2B

Gene Name

ubiquitin conjugating enzyme E2 B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003337.3		Intron			NP_003328.1

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