Product Details

SNP ID

rs200076126

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2586728 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCATGCAGGTGTCTTCGTCCTCCT[C/G]CTCACACTCCCTGTCAGCCTCCGAC

Phenotype

MIM: 605213

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PDPK1 PubMed Links

Gene Details

Gene

PDPK1

Gene Name

3-phosphoinositide dependent protein kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001261816.1	889	Missense Mutation	TCC,TGC	S393C	NP_001248745.1
NM_002613.4	889	Missense Mutation	TCC,TGC	S393C	NP_002604.1
NM_031268.5	889	Missense Mutation	TCC,TGC	S266C	NP_112558.2
XM_011522521.2	889	Missense Mutation	TCC,TGC	S427C	XP_011520823.1
XM_011522523.2	889	Missense Mutation	TCC,TGC	S300C	XP_011520825.1
XM_017023271.1	889	Missense Mutation	TCC,TGC	S427C	XP_016878760.1
XM_017023272.1	889	Missense Mutation	TCC,TGC	S395C	XP_016878761.1
XM_017023273.1	889	Missense Mutation	TCC,TGC	S393C	XP_016878762.1
XM_017023274.1	889	Missense Mutation	TCC,TGC	S366C	XP_016878763.1
XM_017023275.1	889	Missense Mutation	TCC,TGC	S300C	XP_016878764.1
XM_017023276.1	889	Missense Mutation	TCC,TGC	S266C	XP_016878765.1
XM_017023277.1	889	Missense Mutation	TCC,TGC	S177C	XP_016878766.1

View Full Product Details