Product Details

Primer Sequences
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Primer Chromosome Location
Chr.12: 102843555-102844046 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
691583 c.1183G>T p.A395S Chr.12: 102843662-102843662 on Build GRCh38
6462213 c.1078G>A p.E360K Chr.12: 102843767-102843767 on Build GRCh38
4522915 c.1188G>A p.K396K Chr.12: 102843657-102843657 on Build GRCh38
5909278 c.1189G>A p.E397K Chr.12: 102843656-102843656 on Build GRCh38
1706139 c.1118C>T p.A373V Chr.12: 102843727-102843727 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs199475593 Chr.12: 102843647-102843647 on Build GRCh38
rs62506951 Chr.12: 102843746-102843747 on Build GRCh38
rs5030654 Chr.12: 102843756-102843756 on Build GRCh38
rs62516102 Chr.12: 102843664-102843664 on Build GRCh38
rs754762316 Chr.12: 102844002-102844002 on Build GRCh38
rs62507334 Chr.12: 102843793-102843793 on Build GRCh38
rs751688151 Chr.12: 102843881-102843881 on Build GRCh38
rs1054069544 Chr.12: 102843907-102843907 on Build GRCh38
rs780691974 Chr.12: 102843712-102843712 on Build GRCh38
rs281865458 Chr.12: 102843693-102843693 on Build GRCh38
rs62508595 Chr.12: 102843776-102843776 on Build GRCh38
rs765124844 Chr.12: 102843998-102843998 on Build GRCh38
rs750730715 Chr.12: 102843788-102843788 on Build GRCh38
rs535141809 Chr.12: 102843857-102843857 on Build GRCh38
rs779053558 Chr.12: 102843708-102843708 on Build GRCh38
rs766107583 Chr.12: 102843774-102843774 on Build GRCh38
rs62508574 Chr.12: 102843745-102843745 on Build GRCh38
rs62517163 Chr.12: 102843731-102843731 on Build GRCh38
rs869312997 Chr.12: 102843673-102843673 on Build GRCh38
rs62507320 Chr.12: 102843779-102843779 on Build GRCh38
rs542946164 Chr.12: 102843964-102843964 on Build GRCh38
rs916247986 Chr.12: 102843820-102843820 on Build GRCh38
rs369574052 Chr.12: 102843596-102843596 on Build GRCh38
rs786200861 Chr.12: 102843751-102843753 on Build GRCh38
rs199475685 Chr.12: 102843810-102843810 on Build GRCh38
rs184148104 Chr.12: 102843722-102843722 on Build GRCh38
rs62508674 Chr.12: 102843641-102843641 on Build GRCh38
rs752746091 Chr.12: 102843611-102843611 on Build GRCh38
rs62508684 Chr.12: 102843780-102843780 on Build GRCh38
rs772630527 Chr.12: 102843710-102843710 on Build GRCh38
rs786200862 Chr.12: 102843739-102843753 on Build GRCh38
rs62517194 Chr.12: 102843686-102843686 on Build GRCh38
rs62508737 Chr.12: 102843644-102843644 on Build GRCh38
rs281865435 Chr.12: 102843682-102843682 on Build GRCh38
rs62642937 Chr.12: 102843706-102843706 on Build GRCh38
rs573675426 Chr.12: 102843844-102843844 on Build GRCh38
rs199475695 Chr.12: 102843670-102843670 on Build GRCh38
rs776159017 Chr.12: 102843747-102843747 on Build GRCh38
rs769076484 Chr.12: 102843725-102843725 on Build GRCh38
rs761487922 Chr.12: 102843668-102843668 on Build GRCh38
rs775701242 Chr.12: 102843628-102843628 on Build GRCh38
rs199475629 Chr.12: 102843681-102843682 on Build GRCh38
rs62642911 Chr.12: 102843713-102843713 on Build GRCh38
rs62516101 Chr.12: 102843683-102843683 on Build GRCh38
rs772683682 Chr.12: 102843657-102843657 on Build GRCh38
rs62516096 Chr.12: 102843753-102843755 on Build GRCh38
rs951540129 Chr.12: 102843752-102843752 on Build GRCh38
rs894886853 Chr.12: 102843575-102843575 on Build GRCh38
rs62508736 Chr.12: 102843661-102843661 on Build GRCh38
rs62507329 Chr.12: 102843761-102843761 on Build GRCh38
rs781593136 Chr.12: 102843831-102843831 on Build GRCh38
rs976776708 Chr.12: 102843617-102843617 on Build GRCh38
rs374160054 Chr.12: 102844018-102844018 on Build GRCh38
rs376480977 Chr.12: 102843771-102843771 on Build GRCh38
rs757320744 Chr.12: 102843783-102843783 on Build GRCh38
rs998242445 Chr.12: 102843989-102843989 on Build GRCh38
rs199475584 Chr.12: 102843648-102843648 on Build GRCh38
rs62516099 Chr.12: 102843727-102843728 on Build GRCh38
rs112537797 Chr.12: 102843615-102843615 on Build GRCh38
rs776178623 Chr.12: 102843658-102843658 on Build GRCh38
rs199475667 Chr.12: 102843757-102843758 on Build GRCh38
rs62642942 Chr.12: 102843715-102843715 on Build GRCh38
rs922671240 Chr.12: 102843930-102843930 on Build GRCh38
rs1056671080 Chr.12: 102844022-102844022 on Build GRCh38
rs549833778 Chr.12: 102843801-102843801 on Build GRCh38
rs5030855 Chr.12: 102843790-102843790 on Build GRCh38
rs1054762308 Chr.12: 102843795-102843795 on Build GRCh38
rs1032248318 Chr.12: 102843667-102843667 on Build GRCh38
rs10860928 Chr.12: 102843972-102843972 on Build GRCh38
rs281865453 Chr.12: 102843674-102843674 on Build GRCh38
rs62517203 Chr.12: 102843745-102843746 on Build GRCh38
rs1029016624 Chr.12: 102843950-102843950 on Build GRCh38
rs1037261330 Chr.12: 102843983-102843983 on Build GRCh38
rs62516142 Chr.12: 102843665-102843665 on Build GRCh38
rs918863691 Chr.12: 102843997-102843997 on Build GRCh38
rs780020477 Chr.12: 102843610-102843610 on Build GRCh38
rs199475658 Chr.12: 102843646-102843646 on Build GRCh38
rs755489088 Chr.12: 102843804-102843804 on Build GRCh38
rs62509018 Chr.12: 102843626-102843626 on Build GRCh38
rs372558114 Chr.12: 102843608-102843608 on Build GRCh38
rs910131541 Chr.12: 102843784-102843784 on Build GRCh38
rs977894054 Chr.12: 102843588-102843588 on Build GRCh38
rs281865447 Chr.12: 102843781-102843781 on Build GRCh38
rs772918939 Chr.12: 102843764-102843764 on Build GRCh38
rs62506949 Chr.12: 102843679-102843679 on Build GRCh38
rs62508613 Chr.12: 102843629-102843629 on Build GRCh38
rs281865436 Chr.12: 102843649-102843649 on Build GRCh38
rs772896 Chr.12: 102844015-102844015 on Build GRCh38
rs777846905 Chr.12: 102843620-102843620 on Build GRCh38
rs199475490 Chr.12: 102843778-102843779 on Build GRCh38
rs62516097 Chr.12: 102843741-102843755 on Build GRCh38
rs149595475 Chr.12: 102843684-102843684 on Build GRCh38
rs63329263 Chr.12: 102843756-102843756 on Build GRCh38
rs554043701 Chr.12: 102843946-102843946 on Build GRCh38
rs267603271 Chr.12: 102843704-102843704 on Build GRCh38
rs62516103 Chr.12: 102843662-102843662 on Build GRCh38
rs771420692 Chr.12: 102843616-102843616 on Build GRCh38
rs62516141 Chr.12: 102843688-102843688 on Build GRCh38
rs772897 Chr.12: 102843690-102843690 on Build GRCh38
rs62516095 Chr.12: 102843777-102843777 on Build GRCh38
rs62642941 Chr.12: 102843716-102843716 on Build GRCh38
rs62509015 Chr.12: 102843645-102843645 on Build GRCh38
rs199475593 Chr.12: 102843647-102843647 on Build GRCh38
rs199475603 Chr.12: 102843646-102843649 on Build GRCh38
rs999297649 Chr.12: 102843889-102843889 on Build GRCh38
rs750218310 Chr.12: 102843604-102843604 on Build GRCh38
rs5030856 Chr.12: 102843676-102843676 on Build GRCh38
rs62642921 Chr.12: 102843718-102843718 on Build GRCh38
rs779292646 Chr.12: 102843636-102843636 on Build GRCh38
rs62507268 Chr.12: 102843733-102843733 on Build GRCh38
rs199475590 Chr.12: 102843647-102843647 on Build GRCh38
rs747661840 Chr.12: 102843750-102843750 on Build GRCh38
rs749467239 Chr.12: 102843624-102843624 on Build GRCh38
rs199475691 Chr.12: 102843689-102843689 on Build GRCh38
rs62508620 Chr.12: 102843746-102843746 on Build GRCh38
rs281865457 Chr.12: 102843576-102843576 on Build GRCh38
rs62508717 Chr.12: 102843728-102843728 on Build GRCh38
rs1037293795 Chr.12: 102843698-102843698 on Build GRCh38
rs62507344 Chr.12: 102843782-102843782 on Build GRCh38
rs373763334 Chr.12: 102843705-102843705 on Build GRCh38
rs199475638 Chr.12: 102843651-102843651 on Build GRCh38
rs765490451 Chr.12: 102843787-102843787 on Build GRCh38
rs199475638 Chr.12: 102843651-102843651 on Build GRCh38
rs965828144 Chr.12: 102843880-102843880 on Build GRCh38
rs746203167 Chr.12: 102843709-102843709 on Build GRCh38
rs62508648 Chr.12: 102843744-102843744 on Build GRCh38
rs954194113 Chr.12: 102843941-102843941 on Build GRCh38
rs760256025 Chr.12: 102843660-102843660 on Build GRCh38
rs771059413 Chr.12: 102843634-102843634 on Build GRCh38
rs180819807 Chr.12: 102843671-102843671 on Build GRCh38
rs62516098 Chr.12: 102843748-102843748 on Build GRCh38
rs5030854 Chr.12: 102843769-102843769 on Build GRCh38
rs1057516699 Chr.12: 102843698-102843698 on Build GRCh38

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