Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 21391602-21391829 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
4147992 c.6049C>A p.L2017M Chr.14: 21391642-21391642 on Build GRCh38
4147993 c.6886C>A p.L2296M Chr.14: 21391642-21391642 on Build GRCh38
5954428 c.6885+4A>C p.? Chr.14: 21391829-21391829 on Build GRCh38
5642487 c.6051G>C p.L2017L Chr.14: 21391640-21391640 on Build GRCh38
2029920 c.6925G>C p.V2309L Chr.14: 21391603-21391603 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs1055935946 Chr.14: 21391700-21391700 on Build GRCh38
rs1004105659 Chr.14: 21391749-21391749 on Build GRCh38
rs749265628 Chr.14: 21391646-21391646 on Build GRCh38
rs187039795 Chr.14: 21391712-21391712 on Build GRCh38
rs898198332 Chr.14: 21391692-21391692 on Build GRCh38
rs543292703 Chr.14: 21391711-21391711 on Build GRCh38
rs760750479 Chr.14: 21391679-21391679 on Build GRCh38
rs190328036 Chr.14: 21391715-21391715 on Build GRCh38
rs183152768 Chr.14: 21391687-21391687 on Build GRCh38
rs967813670 Chr.14: 21391772-21391772 on Build GRCh38
rs755659113 Chr.14: 21391627-21391627 on Build GRCh38
rs745665887 Chr.14: 21391663-21391663 on Build GRCh38
rs777365850 Chr.14: 21391645-21391645 on Build GRCh38
rs770958023 Chr.14: 21391660-21391660 on Build GRCh38
rs776652816 Chr.14: 21391690-21391690 on Build GRCh38
rs752374420 Chr.14: 21391688-21391691 on Build GRCh38
rs951274165 Chr.14: 21391748-21391748 on Build GRCh38
rs1047803589 Chr.14: 21391699-21391699 on Build GRCh38
rs374761684 Chr.14: 21391666-21391666 on Build GRCh38
rs772253012 Chr.14: 21391664-21391664 on Build GRCh38
rs559803331 Chr.14: 21391794-21391794 on Build GRCh38
rs750851508 Chr.14: 21391803-21391803 on Build GRCh38
rs557402430 Chr.14: 21391662-21391662 on Build GRCh38
rs993841017 Chr.14: 21391696-21391696 on Build GRCh38
rs755031495 Chr.14: 21391626-21391626 on Build GRCh38
rs542904757 Chr.14: 21391767-21391767 on Build GRCh38
rs529178653 Chr.14: 21391744-21391744 on Build GRCh38
rs1011691056 Chr.14: 21391750-21391750 on Build GRCh38
rs1034487072 Chr.14: 21391736-21391736 on Build GRCh38
rs781059892 Chr.14: 21391687-21391688 on Build GRCh38
rs369733083 Chr.14: 21391796-21391796 on Build GRCh38
rs907412959 Chr.14: 21391710-21391710 on Build GRCh38
rs958795683 Chr.14: 21391741-21391741 on Build GRCh38
rs368083588 Chr.14: 21391654-21391654 on Build GRCh38

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