Product Details

SNP ID
rs149743116
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:8881839 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGTTGAGGTTCACGGAGGTACAGA[C/T]CTTCTCCAGGTTGCTCCAGCGACTT
Phenotype
MIM: 611317
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PIK3R5 PubMed Links

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 2203 Missense Mutation ATC,GTC I750V NP_001136105.1
NM_001251851.1 2203 Missense Mutation ATC,GTC I364V NP_001238780.1
NM_001251852.1 2203 Missense Mutation ATC,GTC I364V NP_001238781.1
NM_001251853.1 2203 Missense Mutation ATC,GTC I364V NP_001238782.1
NM_001251855.1 2203 Missense Mutation ATC,GTC I364V NP_001238784.1
NM_014308.3 2203 Missense Mutation ATC,GTC I750V NP_055123.2
XM_005256580.3 2203 Missense Mutation ATC,GTC I749V XP_005256637.1

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