Product Details

SNP ID
rs145092859
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:11027227 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAGAAAACCCCTTTGGGTTAATCC[C/G]CATCCAGATGCAGTTCCAATGTCAT
Phenotype
MIM: 605102 MIM: 605078
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MASP2 PubMed Links

Gene Details

Gene
MASP2
Gene Name
mannan binding lectin serine peptidase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006610.3 1751 Missense Mutation TGC,TGG C573W NP_006601.2
NM_139208.2 1751 Intron NP_631947.1
XM_017000097.1 1751 Intron XP_016855586.1
Gene
TARDBP
Gene Name
TAR DNA binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007375.3 1751 Intron NP_031401.1
XM_017000863.1 1751 Intron XP_016856352.1
XM_017000864.1 1751 Intron XP_016856353.1
XM_017000865.1 1751 Intron XP_016856354.1
XM_017000866.1 1751 Intron XP_016856355.1
XM_017000867.1 1751 Intron XP_016856356.1
XM_017000868.1 1751 Intron XP_016856357.1

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