Product Details

SNP ID
rs143704348
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:39179179 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTATAGCACTTTAACTTTTGAGC[A/G]GAAGTACCTGTTGGCGTCTTCTGTT
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CDKL4 PubMed Links

Gene Details

Gene
CDKL4
Gene Name
cyclin dependent kinase like 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001009565.1 935 Missense Mutation CCG,CTG P312L NP_001009565.1
XM_011532815.2 935 Intron XP_011531117.1
XM_011532816.2 935 Intron XP_011531118.1
XM_011532817.2 935 Intron XP_011531119.1
XM_011532819.2 935 Intron XP_011531121.1
XM_017003981.1 935 Intron XP_016859470.1
XM_017003982.1 935 Intron XP_016859471.1
XM_017003983.1 935 Intron XP_016859472.1
XM_017003984.1 935 Intron XP_016859473.1
XM_017003985.1 935 Intron XP_016859474.1

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