Product Details

SNP ID

rs145851529

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:134302661 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAGATGACTCTGTTTTCTTTGACT[C/T]CCTCTTCAGCATTTTTATCTGTTTA

Phenotype

MIM: 608459

Polymorphism

C/T, 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	1049	Missense Mutation	AAG,GAG	K550E	NP_001107047.1
NM_001300853.1	1049	Missense Mutation	AAG,GAG	K361E	NP_001287782.1
NM_016508.3	1049	Intron			NP_057592.2
XM_011543429.2	1049	Missense Mutation	AAG,GAG	K562E	XP_011541731.1
XM_011543439.2	1049	Missense Mutation	AAG,GAG	K361E	XP_011541741.1
XM_011543444.2	1049	Missense Mutation	AAG,GAG	K255E	XP_011541746.1
XM_011543445.2	1049	Missense Mutation	AAG,GAG	K255E	XP_011541747.1
XM_011543447.2	1049	Missense Mutation	AAG,GAG	K255E	XP_011541749.1
XM_017009524.1	1049	Missense Mutation	AAG,GAG	K577E	XP_016865013.1
XM_017009525.1	1049	Missense Mutation	AAG,GAG	K577E	XP_016865014.1
XM_017009526.1	1049	Missense Mutation	AAG,GAG	K577E	XP_016865015.1
XM_017009527.1	1049	Missense Mutation	AAG,GAG	K565E	XP_016865016.1
XM_017009528.1	1049	Missense Mutation	AAG,GAG	K562E	XP_016865017.1
XM_017009529.1	1049	Missense Mutation	AAG,GAG	K577E	XP_016865018.1
XM_017009530.1	1049	Missense Mutation	AAG,GAG	K577E	XP_016865019.1
XM_017009531.1	1049	Missense Mutation	AAG,GAG	K577E	XP_016865020.1
XM_017009532.1	1049	Missense Mutation	AAG,GAG	K550E	XP_016865021.1
XM_017009533.1	1049	Missense Mutation	AAG,GAG	K562E	XP_016865022.1
XM_017009534.1	1049	Missense Mutation	AAG,GAG	K562E	XP_016865023.1
XM_017009535.1	1049	Missense Mutation	AAG,GAG	K550E	XP_016865024.1
XM_017009536.1	1049	Missense Mutation	AAG,GAG	K481E	XP_016865025.1
XM_017009537.1	1049	Missense Mutation	AAG,GAG	K424E	XP_016865026.1
XM_017009538.1	1049	Missense Mutation	AAG,GAG	K376E	XP_016865027.1
XM_017009539.1	1049	Missense Mutation	AAG,GAG	K376E	XP_016865028.1
XM_017009540.1	1049	Missense Mutation	AAG,GAG	K376E	XP_016865029.1
XM_017009541.1	1049	Missense Mutation	AAG,GAG	K376E	XP_016865030.1
XM_017009542.1	1049	Missense Mutation	AAG,GAG	K376E	XP_016865031.1
XM_017009543.1	1049	Missense Mutation	AAG,GAG	K376E	XP_016865032.1
XM_017009544.1	1049	Missense Mutation	AAG,GAG	K255E	XP_016865033.1
XM_017009545.1	1049	Missense Mutation	AAG,GAG	K255E	XP_016865034.1
XM_017009546.1	1049	Missense Mutation	AAG,GAG	K255E	XP_016865035.1
XM_017009547.1	1049	Missense Mutation	AAG,GAG	K255E	XP_016865036.1
XM_017009548.1	1049	Intron			XP_016865037.1

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