Product Details

SNP ID
rs139002111
Assay Type
Functionally Tested
NCBI dbSNP Submissions
6
Location
Chr.1:46184331 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTCCTCATCGCAGCCGGCGTTGT[C/G]GTCTTTGCTCTTGGTTTCCTGGGCT
Phenotype
MIM: 606076 MIM: 606822 MIM: 613170
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
PIK3R3 PubMed Links

Gene Details

Gene
PIK3R3
Gene Name
phosphoinositide-3-kinase regulatory subunit 3
There are no transcripts associated with this gene.

Gene
POMGNT1
Gene Name
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
There are no transcripts associated with this gene.

Gene
TSPAN1
Gene Name
tetraspanin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005727.3 646 Silent Mutation GTC,GTG V66V NP_005718.2
XM_011540460.2 646 Silent Mutation GTC,GTG V66V XP_011538762.1

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