Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 21385551-21385814 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
CHD8
Entrez Gene ID
57680
Gene Name
chromodomain helicase DNA binding protein 8
Gene Aliases
AUTS18, HELSNF1
UniGene
Hs.530698
Gene Chromosome Location
Chr.14: 21385194-21437298 on Build GRCh38
Transcripts
NM_001170629.1 NM_020920.3

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
954414 c.7588C>T p.R2530W Chr.14: 21385771-21385771 on Build GRCh38
6880569 c.7618G>A p.D2540N Chr.14: 21385741-21385741 on Build GRCh38
6880568 c.6781G>A p.D2261N Chr.14: 21385741-21385741 on Build GRCh38
1587329 c.6751C>T p.R2251W Chr.14: 21385771-21385771 on Build GRCh38
469785 c.7713T>C p.A2571A Chr.14: 21385646-21385646 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs367905297 Chr.14: 21385739-21385739 on Build GRCh38
rs563339561 Chr.14: 21385684-21385684 on Build GRCh38
rs767340595 Chr.14: 21385757-21385757 on Build GRCh38
rs906959238 Chr.14: 21385759-21385759 on Build GRCh38
rs61748933 Chr.14: 21385694-21385694 on Build GRCh38
rs559491809 Chr.14: 21385792-21385792 on Build GRCh38
rs755292321 Chr.14: 21385626-21385626 on Build GRCh38
rs929797324 Chr.14: 21385729-21385729 on Build GRCh38
rs762463472 Chr.14: 21385698-21385698 on Build GRCh38
rs898292610 Chr.14: 21385726-21385726 on Build GRCh38
rs2772133 Chr.14: 21385645-21385645 on Build GRCh38
rs942571885 Chr.14: 21385663-21385663 on Build GRCh38
rs371759126 Chr.14: 21385769-21385769 on Build GRCh38
rs965429372 Chr.14: 21385603-21385603 on Build GRCh38
rs911146595 Chr.14: 21385637-21385637 on Build GRCh38
rs754091661 Chr.14: 21385593-21385593 on Build GRCh38
rs376217321 Chr.14: 21385790-21385790 on Build GRCh38
rs573661662 Chr.14: 21385697-21385697 on Build GRCh38
rs778470457 Chr.14: 21385722-21385724 on Build GRCh38
rs543520395 Chr.14: 21385616-21385616 on Build GRCh38
rs370955484 Chr.14: 21385724-21385724 on Build GRCh38
rs765051321 Chr.14: 21385584-21385584 on Build GRCh38
rs577177637 Chr.14: 21385583-21385583 on Build GRCh38
rs754992097 Chr.14: 21385754-21385754 on Build GRCh38
rs752493285 Chr.14: 21385738-21385738 on Build GRCh38
rs1019253397 Chr.14: 21385595-21385595 on Build GRCh38

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