Product Details

SNP ID

rs141174563

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:11026893 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTGCAGACACGCAAGTTAAAAAT[C/T]ACTAATTATGTTCTCGATCCAGGGA

Phenotype

MIM: 605102 MIM: 605078

Polymorphism

C/T, Transition 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	2085	Missense Mutation	AAT,GAT	N685D	NP_006601.2
NM_139208.2	2085	Intron			NP_631947.1
XM_017000097.1	2085	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	2085	Intron			NP_031401.1
XM_017000863.1	2085	Intron			XP_016856352.1
XM_017000864.1	2085	Intron			XP_016856353.1
XM_017000865.1	2085	Intron			XP_016856354.1
XM_017000866.1	2085	Intron			XP_016856355.1
XM_017000867.1	2085	Intron			XP_016856356.1
XM_017000868.1	2085	Intron			XP_016856357.1

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