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286387 RESULTS

Helmholtz Antibody Collection

Other The following are selected lists of antibodies against microglial proteins that are available through the Monoclonal Antibody Core Facility at Helmholtz Munich. To request these antibodies, see the antibody request page. ABI3 | ApoE | CD33 | CLEC7A | CX3C

SORL1 c.-2484C> A

MUTATIONS SORL1 121320557 GRCh37/hg19 rs57785427 C A Upstream of 5′ UTR Non-Coding c.-2484C>A Alzheimer's Disease

SORL1 c.-1287T> C (SNP 1)

MUTATIONS SORL1 121321754 GRCh37/hg19 rs4935774 T C Upstream of 5′ UTR Non-Coding c.-1287T>C Alzheimer's Disease

SORL1 c.-1204G> T

MUTATIONS SORL1 121321837 GRCh37/hg19 rs140041029 G T Upstream of 5′ UTR Non-Coding c.-1204G>T Alzheimer's Disease

SORL1 R11P

MUTATIONS SORL1 121323072 GRCh37/hg19 rs147575757 G C Exon 1 Coding Unknown; predicted to be deleterious by SIFT, neutral by Mutation Taster, and benign by PolyPhen-2. Unknown. R11P Alzheimer's Disease CGA CCA 11

SORL1 W31Ter

MUTATIONS SORL1 121323132 GRCh37/hg19 G A Exon 1 Coding Unknown. Unknown. W31Ter Alzheimer's Disease TGG TAG 31

SORL1 D54H

MUTATIONS SORL1 121323200 GRCh37/hg19 rs761865673 G C Exon 1 Coding Unknown; predicted to be deleterious by SIFT, but neutral/benign by Mutation Taster and PolyPhen-2. Unknown. D54H Alzheimer's Disease This variant was found in one subject with early onset Alz

SORL1 P55Rfs

MUTATIONS SORL1 121323202 GRCh37/hg19 C- Exon 1 Coding Unknown. Unknown. P55Rfs Alzheimer's Disease 54

SORL1 R67S (G> C)

MUTATIONS SORL1 121323241 GRCh37/hg19 rs556756459 G C Exon 1 Coding Unknown; predicted tolerated in silico. Unknown. R67S (G>C) Alzheimer's Disease This variant was found in one subject with early onset Alzheimer’s disease and one control in a sample of 852

SORL1 R67S (G> T)

MUTATIONS SORL1 121323241 GRCh37/hg19 rs556756459 G T Exon 1 Coding Unknown; predicted tolerated in silico. Unknown. R67S (G>T) Alzheimer's Disease This variant was found in one subject with early onset Alzheimer’s disease in a sample of 852 early onset cas

SORL1 P76L

MUTATIONS SORL1 121323267 GRCh37/hg19 rs372705427 C T Exon 1 Coding Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. Unknown. P76L Alzheimer's Disease CCG CTG 76

SORL1 c.285+882T> C

MUTATIONS SORL1 121324207 GRCh37/hg19 rs17125349 T C Intron 1 Non-Coding c.285+882T>C Alzheimer's Disease

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