Product Details

SNP ID
rs146496665
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:5193155 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCATCAAGAGCAGCTGGTCTTGGC[C/T]GTCGCGCTGTTGTCTGGTTAGTTCC
Phenotype
MIM: 609225
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
WIPI2 PubMed Links

Gene Details

Gene
WIPI2
Gene Name
WD repeat domain, phosphoinositide interacting 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033518.1 328 Missense Mutation CGT,TGT R38C NP_001028690.1
NM_001033519.1 328 Intron NP_001028691.1
NM_001033520.1 328 Intron NP_001028692.1
NM_001278299.1 328 UTR 5 NP_001265228.1
NM_015610.3 328 Missense Mutation CGT,TGT R38C NP_056425.1
NM_016003.3 328 Intron NP_057087.2
XM_006715685.1 328 Intron XP_006715748.1
XM_017011952.1 328 Intron XP_016867441.1

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