Product Details

SNP ID
rs61753168
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:18644451 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACCCGGTTGTTTCCAGTCTGGTC[G/C]TTGTAGTAAATCCAGTTCAGGCGCT
Phenotype
MIM: 300203 MIM: 300839
Polymorphism
G/C, 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_001037343.1 536 Intron NP_001032420.1
NM_001323289.1 536 Intron NP_001310218.1
NM_003159.2 536 Intron NP_003150.1
Gene
RS1
Gene Name
retinoschisin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000330.3 536 Missense Mutation AAC,AAG N167K NP_000321.1

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