Product Details

SNP ID

rs142251178

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:47223706 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGACCCTGGAGAGGCCCCCACAC[A/G]TGCTGCTCCTGGGGAACTTCGTTCT

Phenotype

MIM: 311550 MIM: 314370 MIM: 300050

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CDK16 PubMed Links

Gene Details

Gene

CDK16

Gene Name

cyclin dependent kinase 16

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001170460.1	1059	Missense Mutation	CAT,CGT	H124R	NP_001163931.1
NM_006201.4	1059	Missense Mutation	CAT,CGT	H50R	NP_006192.1
NM_033018.3	1059	Missense Mutation	CAT,CGT	H56R	NP_148978.2
XM_011543920.2	1059	Missense Mutation	CAT,CGT	H124R	XP_011542222.1
XM_011543921.1	1059	Missense Mutation	CAT,CGT	H97R	XP_011542223.1
XM_011543922.1	1059	Missense Mutation	CAT,CGT	H93R	XP_011542224.1
XM_011543923.1	1059	Missense Mutation	CAT,CGT	H56R	XP_011542225.1
XM_011543924.1	1059	Missense Mutation	CAT,CGT	H50R	XP_011542226.1
XM_011543925.2	1059	Missense Mutation	CAT,CGT	H50R	XP_011542227.1
XM_011543926.1	1059	Missense Mutation	CAT,CGT	H50R	XP_011542228.1
XM_011543927.2	1059	Missense Mutation	CAT,CGT	H50R	XP_011542229.1
XM_011543928.1	1059	Missense Mutation	CAT,CGT	H50R	XP_011542230.1
XM_017029569.1	1059	Missense Mutation	CAT,CGT	H97R	XP_016885058.1
XM_017029570.1	1059	Missense Mutation	CAT,CGT	H50R	XP_016885059.1
XM_017029571.1	1059	Missense Mutation	CAT,CGT	H50R	XP_016885060.1
XM_017029572.1	1059	Missense Mutation	CAT,CGT	H50R	XP_016885061.1
XM_017029573.1	1059	Missense Mutation	CAT,CGT	H50R	XP_016885062.1

Gene

UBA1

Gene Name

ubiquitin like modifier activating enzyme 1

There are no transcripts associated with this gene.

Gene

USP11

Gene Name

ubiquitin specific peptidase 11

There are no transcripts associated with this gene.

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