Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 46494017-46494278 on Build GRCh38
Format
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
Primer Designer™ Tool Quick Reference
Ampliseq ID's

Gene Details

Gene Symbol
AMBRA1
Entrez Gene ID
55626
Gene Name
autophagy and beclin 1 regulator 1
Gene Aliases
DCAF3, WDR94
UniGene
Hs.654644
Gene Chromosome Location
Chr.11: 46396412-46594069 on Build GRCh38
Transcripts
NM_001267782.1 NM_001267783.1 NM_001300731.1 NM_017749.3 XM_005253009.3 XM_005253011.3 XM_005253014.3 XM_006718259.2 XM_006718260.2 XM_017018007.1 XM_017018008.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4772172 c.2080G>A p.D694N Chr.11: 46494194-46494194 on Build GRCh38
4617126 c.2078G>A p.G693D Chr.11: 46494196-46494196 on Build GRCh38
7348485 c.2384G>A p.R795Q Chr.11: 46494160-46494160 on Build GRCh38
7348484 c.2114G>A p.R705Q Chr.11: 46494160-46494160 on Build GRCh38
1980535 c.2383C>T p.R795W Chr.11: 46494161-46494161 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs150402312 Chr.11: 46494110-46494110 on Build GRCh38
rs1052755163 Chr.11: 46494105-46494105 on Build GRCh38
rs1010370004 Chr.11: 46494088-46494088 on Build GRCh38
rs750775672 Chr.11: 46494135-46494135 on Build GRCh38
rs555073518 Chr.11: 46494253-46494253 on Build GRCh38
rs111449703 Chr.11: 46494215-46494215 on Build GRCh38
rs760072932 Chr.11: 46494208-46494208 on Build GRCh38
rs763412301 Chr.11: 46494136-46494136 on Build GRCh38
rs991493394 Chr.11: 46494222-46494222 on Build GRCh38
rs372414170 Chr.11: 46494253-46494253 on Build GRCh38
rs994639663 Chr.11: 46494166-46494166 on Build GRCh38
rs147544015 Chr.11: 46494199-46494199 on Build GRCh38
rs202029338 Chr.11: 46494144-46494144 on Build GRCh38
rs765634058 Chr.11: 46494062-46494062 on Build GRCh38
rs770357121 Chr.11: 46494227-46494227 on Build GRCh38
rs867597234 Chr.11: 46494145-46494145 on Build GRCh38
rs762390386 Chr.11: 46494131-46494131 on Build GRCh38
rs956096616 Chr.11: 46494080-46494080 on Build GRCh38
rs950812034 Chr.11: 46494196-46494196 on Build GRCh38
rs770623569 Chr.11: 46494192-46494192 on Build GRCh38
rs778837759 Chr.11: 46494198-46494198 on Build GRCh38
rs776891245 Chr.11: 46494126-46494126 on Build GRCh38
rs528504287 Chr.11: 46494063-46494063 on Build GRCh38
rs1009253916 Chr.11: 46494127-46494127 on Build GRCh38
rs765868168 Chr.11: 46494134-46494134 on Build GRCh38
rs776422991 Chr.11: 46494092-46494092 on Build GRCh38
rs370519442 Chr.11: 46494115-46494115 on Build GRCh38
rs772273682 Chr.11: 46494101-46494101 on Build GRCh38
rs368132450 Chr.11: 46494181-46494181 on Build GRCh38
rs972599407 Chr.11: 46494207-46494208 on Build GRCh38
rs537702870 Chr.11: 46494176-46494176 on Build GRCh38
rs753061754 Chr.11: 46494114-46494114 on Build GRCh38
rs1017490334 Chr.11: 46494143-46494143 on Build GRCh38
rs536434964 Chr.11: 46494221-46494221 on Build GRCh38
rs752251171 Chr.11: 46494162-46494162 on Build GRCh38
rs775591239 Chr.11: 46494102-46494102 on Build GRCh38
rs541266582 Chr.11: 46494252-46494253 on Build GRCh38
rs143288318 Chr.11: 46494170-46494170 on Build GRCh38
rs780533083 Chr.11: 46494156-46494156 on Build GRCh38
rs944067135 Chr.11: 46494246-46494246 on Build GRCh38
rs773867986 Chr.11: 46494228-46494228 on Build GRCh38
rs754723478 Chr.11: 46494150-46494150 on Build GRCh38
rs768971927 Chr.11: 46494201-46494201 on Build GRCh38
rs1049649922 Chr.11: 46494225-46494225 on Build GRCh38

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