Product Details

SNP ID

rs140496175

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:47223724 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCACACGTGCTGCTCCTGGGGAAC[A/T]TCGTTCTGCACGGGGCCCACTCAGC

Phenotype

MIM: 311550 MIM: 314370 MIM: 300050

Polymorphism

A/T, Transversion 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	1077	Missense Mutation	CAT,CTT	H130L	NP_001163931.1
NM_006201.4	1077	Missense Mutation	CAT,CTT	H56L	NP_006192.1
NM_033018.3	1077	Missense Mutation	CAT,CTT	H62L	NP_148978.2
XM_011543920.2	1077	Missense Mutation	CAT,CTT	H130L	XP_011542222.1
XM_011543921.1	1077	Missense Mutation	CAT,CTT	H103L	XP_011542223.1
XM_011543922.1	1077	Missense Mutation	CAT,CTT	H99L	XP_011542224.1
XM_011543923.1	1077	Missense Mutation	CAT,CTT	H62L	XP_011542225.1
XM_011543924.1	1077	Missense Mutation	CAT,CTT	H56L	XP_011542226.1
XM_011543925.2	1077	Missense Mutation	CAT,CTT	H56L	XP_011542227.1
XM_011543926.1	1077	Missense Mutation	CAT,CTT	H56L	XP_011542228.1
XM_011543927.2	1077	Missense Mutation	CAT,CTT	H56L	XP_011542229.1
XM_011543928.1	1077	Missense Mutation	CAT,CTT	H56L	XP_011542230.1
XM_017029569.1	1077	Missense Mutation	CAT,CTT	H103L	XP_016885058.1
XM_017029570.1	1077	Missense Mutation	CAT,CTT	H56L	XP_016885059.1
XM_017029571.1	1077	Missense Mutation	CAT,CTT	H56L	XP_016885060.1
XM_017029572.1	1077	Missense Mutation	CAT,CTT	H56L	XP_016885061.1
XM_017029573.1	1077	Missense Mutation	CAT,CTT	H56L	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.

View Full Product Details