Product Details

SNP ID
rs199741261
Assay Type
Functionally Tested
NCBI dbSNP Submissions
11
Location
Chr.1:1615612 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGCTCCTAGGTCACTGGCGCGATG[A/C]GGGCCGTCCTCTCGGCTGATGGTGC
Phenotype
MIM: 611141
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
MIB2 PubMed Links

Gene Details

Gene
MIB2
Gene Name
mindbomb E3 ubiquitin protein ligase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001170686.1 198 Nonsense Mutation TGA,TGC *51C NP_001164157.1
NM_001170687.1 198 Nonsense Mutation TGA,TGC *51C NP_001164158.1
NM_001170688.1 198 Nonsense Mutation TGA,TGC *51C NP_001164159.1
NM_001170689.1 198 Intron NP_001164160.1
NM_080875.2 198 Nonsense Mutation TGA,TGC *51C NP_543151.2
XM_006710372.1 198 Nonsense Mutation TGA,TGC *51C XP_006710435.1
XM_011540731.2 198 Nonsense Mutation TGA,TGC *51C XP_011539033.1
XM_011540736.2 198 Nonsense Mutation TGA,TGC *51C XP_011539038.1
XM_011540737.2 198 Nonsense Mutation TGA,TGC *51C XP_011539039.1
XM_011540741.2 198 Nonsense Mutation TGA,TGC *51C XP_011539043.1
XM_011540742.2 198 Nonsense Mutation TGA,TGC *51C XP_011539044.1
XM_017000349.1 198 Nonsense Mutation TGA,TGC *51C XP_016855838.1
XM_017000350.1 198 Nonsense Mutation TGA,TGC *51C XP_016855839.1
XM_017000351.1 198 Nonsense Mutation TGA,TGC *51C XP_016855840.1
XM_017000352.1 198 Nonsense Mutation TGA,TGC *51C XP_016855841.1
XM_017000353.1 198 Nonsense Mutation TGA,TGC *51C XP_016855842.1
XM_017000354.1 198 Nonsense Mutation TGA,TGC *51C XP_016855843.1
XM_017000355.1 198 Nonsense Mutation TGA,TGC *51C XP_016855844.1
XM_017000356.1 198 Nonsense Mutation TGA,TGC *51C XP_016855845.1
XM_017000357.1 198 Nonsense Mutation TGA,TGC *51C XP_016855846.1
XM_017000358.1 198 Nonsense Mutation TGA,TGC *51C XP_016855847.1
XM_017000359.1 198 Nonsense Mutation TGA,TGC *51C XP_016855848.1
XM_017000360.1 198 Nonsense Mutation TGA,TGC *51C XP_016855849.1
XM_017000361.1 198 Nonsense Mutation TGA,TGC *51C XP_016855850.1
XM_017000362.1 198 Intron XP_016855851.1
XM_017000363.1 198 Intron XP_016855852.1
XM_017000364.1 198 Nonsense Mutation TGA,TGC *51C XP_016855853.1
XM_017000365.1 198 UTR 5 XP_016855854.1
XM_017000366.1 198 UTR 5 XP_016855855.1

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