Product Details

SNP ID

rs139664341

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:8881818 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTCCTGCTTCCGGCAGGCCTTGT[G/T]GAGGTTCACGGAGGTACAGACCTTC

Phenotype

MIM: 611317

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

PIK3R5 PubMed Links

Additional Information

For this assay, SNP(s) [rs9902600,rs9903447] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

PIK3R5

Gene Name

phosphoinositide-3-kinase regulatory subunit 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142633.2	2224	Missense Mutation	AAC,CAC	N757H	NP_001136105.1
NM_001251851.1	2224	Missense Mutation	AAC,CAC	N371H	NP_001238780.1
NM_001251852.1	2224	Missense Mutation	AAC,CAC	N371H	NP_001238781.1
NM_001251853.1	2224	Missense Mutation	AAC,CAC	N371H	NP_001238782.1
NM_001251855.1	2224	Missense Mutation	AAC,CAC	N371H	NP_001238784.1
NM_014308.3	2224	Missense Mutation	AAC,CAC	N757H	NP_055123.2
XM_005256580.3	2224	Missense Mutation	AAC,CAC	N756H	XP_005256637.1

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