Product Details

SNP ID
rs202055317
Assay Type
Functionally tested
NCBI dbSNP Submissions
8
Location
Chr.1:46046018 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTCCTCTGCTTGTACTCGATTGA[C/T]ATCCTCAACAAACCAGGTTTTCTCA
Phenotype
MIM: 612257 MIM: 606076
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MAST2 PubMed Links

Gene Details

Gene
MAST2
Gene Name
microtubule associated serine/threonine kinase 2
There are no transcripts associated with this gene.

Gene
PIK3R3
Gene Name
phosphoinositide-3-kinase regulatory subunit 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001114172.1 1188 Missense Mutation ATC,GTC I363V NP_001107644.1
NM_001303427.1 1188 Missense Mutation ATC,GTC I409V NP_001290356.1
NM_001303428.1 1188 Missense Mutation ATC,GTC I380V NP_001290357.1
NM_001303429.1 1188 Missense Mutation ATC,GTC I304V NP_001290358.1
NM_003629.3 1188 Missense Mutation ATC,GTC I363V NP_003620.3
XM_017002614.1 1188 Missense Mutation ATC,GTC I363V XP_016858103.1

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