Product Details

Primer Sequences
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Primer Chromosome Location
Chr.12: 102851578-102851851 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
PAH
Entrez Gene ID
5053
Gene Name
phenylalanine hydroxylase
Gene Aliases
PH, PKU, PKU1
UniGene
Hs.603740
Gene Chromosome Location
Chr.12: 102838326-102917603 on Build GRCh38
Transcripts
NM_000277.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
7239561 c.861G>T p.L287L Chr.12: 102851738-102851738 on Build GRCh38
3455200 c.908C>T p.S303F Chr.12: 102851691-102851691 on Build GRCh38
6135541 c.896T>A p.F299Y Chr.12: 102851703-102851703 on Build GRCh38
3455201 c.856G>A p.E286K Chr.12: 102851743-102851743 on Build GRCh38
4904541 c.865G>A p.G289R Chr.12: 102851734-102851734 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs1032502401 Chr.12: 102851675-102851675 on Build GRCh38
rs62508739 Chr.12: 102851743-102851743 on Build GRCh38
rs5030853 Chr.12: 102851701-102851701 on Build GRCh38
rs774242938 Chr.12: 102851664-102851664 on Build GRCh38
rs199475592 Chr.12: 102851688-102851688 on Build GRCh38
rs754686336 Chr.12: 102851738-102851738 on Build GRCh38
rs973300958 Chr.12: 102851773-102851773 on Build GRCh38
rs746946875 Chr.12: 102851829-102851829 on Build GRCh38
rs762205695 Chr.12: 102851787-102851787 on Build GRCh38
rs199475660 Chr.12: 102851754-102851754 on Build GRCh38
rs919089627 Chr.12: 102851777-102851777 on Build GRCh38
rs765823928 Chr.12: 102851705-102851705 on Build GRCh38
rs796064504 Chr.12: 102851704-102851704 on Build GRCh38
rs949413902 Chr.12: 102851820-102851820 on Build GRCh38
rs62642933 Chr.12: 102851703-102851703 on Build GRCh38
rs746006793 Chr.12: 102851665-102851665 on Build GRCh38
rs62509019 Chr.12: 102851758-102851758 on Build GRCh38
rs772249197 Chr.12: 102851756-102851756 on Build GRCh38
rs281865446 Chr.12: 102851712-102851712 on Build GRCh38
rs922639027 Chr.12: 102851668-102851669 on Build GRCh38
rs281865450 Chr.12: 102851684-102851684 on Build GRCh38
rs775444121 Chr.12: 102851767-102851767 on Build GRCh38
rs556021587 Chr.12: 102851741-102851741 on Build GRCh38
rs62642920 Chr.12: 102851695-102851695 on Build GRCh38
rs894691589 Chr.12: 102851780-102851780 on Build GRCh38
rs62642939 Chr.12: 102851709-102851709 on Build GRCh38
rs765660781 Chr.12: 102851798-102851798 on Build GRCh38
rs62514956 Chr.12: 102851686-102851686 on Build GRCh38
rs751203209 Chr.12: 102851729-102851729 on Build GRCh38
rs62642919 Chr.12: 102851730-102851730 on Build GRCh38
rs370194528 Chr.12: 102851808-102851808 on Build GRCh38
rs576564915 Chr.12: 102851630-102851630 on Build GRCh38
rs768288352 Chr.12: 102851789-102851791 on Build GRCh38
rs62642945 Chr.12: 102851710-102851710 on Build GRCh38
rs62642910 Chr.12: 102851715-102851715 on Build GRCh38
rs772150451 Chr.12: 102851668-102851668 on Build GRCh38
rs781096854 Chr.12: 102851740-102851740 on Build GRCh38
rs193032469 Chr.12: 102851784-102851784 on Build GRCh38
rs768897517 Chr.12: 102851783-102851783 on Build GRCh38
rs769886088 Chr.12: 102851662-102851662 on Build GRCh38
rs199475609 Chr.12: 102851700-102851700 on Build GRCh38
rs748034432 Chr.12: 102851644-102851644 on Build GRCh38
rs62507267 Chr.12: 102851702-102851704 on Build GRCh38
rs917895089 Chr.12: 102851814-102851814 on Build GRCh38
rs199475608 Chr.12: 102851692-102851692 on Build GRCh38
rs199475582 Chr.12: 102851755-102851755 on Build GRCh38
rs773828440 Chr.12: 102851807-102851807 on Build GRCh38
rs775844366 Chr.12: 102851673-102851673 on Build GRCh38
rs781151957 Chr.12: 102851642-102851642 on Build GRCh38
rs199475583 Chr.12: 102851687-102851687 on Build GRCh38
rs281865449 Chr.12: 102851685-102851685 on Build GRCh38
rs199475682 Chr.12: 102851749-102851749 on Build GRCh38
rs930045223 Chr.12: 102851779-102851779 on Build GRCh38
rs747164559 Chr.12: 102851778-102851778 on Build GRCh38
rs199475693 Chr.12: 102851734-102851734 on Build GRCh38
rs62507327 Chr.12: 102851735-102851735 on Build GRCh38
rs62517168 Chr.12: 102851752-102851752 on Build GRCh38
rs62508693 Chr.12: 102851751-102851751 on Build GRCh38
rs886048890 Chr.12: 102851702-102851702 on Build GRCh38
rs765934604 Chr.12: 102851713-102851713 on Build GRCh38
rs199475636 Chr.12: 102851746-102851746 on Build GRCh38

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