Product Details

SNP ID
rs148865407
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:11026999 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAACCCCAGGACACTATTCCTCC[A/C]ACAAACCACCTCTCTGTTTCACTAT
Phenotype
MIM: 605102 MIM: 605078
Polymorphism
A/C, 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 1979 Silent Mutation GTG,GTT V649V NP_006601.2
NM_139208.2 1979 Intron NP_631947.1
XM_017000097.1 1979 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 1979 Intron NP_031401.1
XM_017000863.1 1979 Intron XP_016856352.1
XM_017000864.1 1979 Intron XP_016856353.1
XM_017000865.1 1979 Intron XP_016856354.1
XM_017000866.1 1979 Intron XP_016856355.1
XM_017000867.1 1979 Intron XP_016856356.1
XM_017000868.1 1979 Intron XP_016856357.1

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