Product Details

SNP ID
rs199804130
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:11016935 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACATCCGATTTAATAGTGTTGGG[G/T]CTCCCATGGAAAACAACCGAACAGG
Phenotype
MIM: 605102 MIM: 605078
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MASP2 PubMed Links

Gene Details

Gene
MASP2
Gene Name
mannan binding lectin serine peptidase 2
There are no transcripts associated with this gene.

Gene
TARDBP
Gene Name
TAR DNA binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007375.3 452 Silent Mutation GGG,GGT G110G NP_031401.1
XM_017000863.1 452 Silent Mutation GGG,GGT G110G XP_016856352.1
XM_017000864.1 452 Silent Mutation GGG,GGT G110G XP_016856353.1
XM_017000865.1 452 Silent Mutation GGG,GGT G110G XP_016856354.1
XM_017000866.1 452 Silent Mutation GGG,GGT G110G XP_016856355.1
XM_017000867.1 452 Silent Mutation GGG,GGT G110G XP_016856356.1
XM_017000868.1 452 Silent Mutation GGG,GGT G110G XP_016856357.1

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