Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 231370449-231370882 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
EGLN1
Entrez Gene ID
54583
Gene Name
egl-9 family hypoxia inducible factor 1
Gene Aliases
C1orf12, ECYT3, HALAH, HIF-PH2, HIFPH2, HPH-2, HPH2, PHD2, SM20, ZMYND6
UniGene
Hs.444450
Gene Chromosome Location
Chr.1: 231363751-231425044 on Build GRCh38
Transcripts
NM_022051.2 XM_005273166.4 XM_005273167.4

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
905497 c.1033A>T p.I345F Chr.1: 231370677-231370677 on Build GRCh38
4680404 c.1090C>T p.L364L Chr.1: 231370620-231370620 on Build GRCh38
320081 c.1120C>T p.H374Y Chr.1: 231370590-231370590 on Build GRCh38
6045387 c.1023T>C p.G341G Chr.1: 231370687-231370687 on Build GRCh38
6358007 c.1121A>G p.H374R Chr.1: 231370589-231370589 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs6670024 Chr.1: 231370854-231370854 on Build GRCh38
rs967753484 Chr.1: 231370747-231370747 on Build GRCh38
rs762633642 Chr.1: 231370717-231370717 on Build GRCh38
rs546933852 Chr.1: 231370540-231370540 on Build GRCh38
rs371091885 Chr.1: 231370711-231370711 on Build GRCh38
rs999192277 Chr.1: 231370761-231370761 on Build GRCh38
rs749582767 Chr.1: 231370631-231370631 on Build GRCh38
rs751498735 Chr.1: 231370748-231370749 on Build GRCh38
rs754085768 Chr.1: 231370611-231370611 on Build GRCh38
rs766135279 Chr.1: 231370514-231370514 on Build GRCh38
rs1050353842 Chr.1: 231370798-231370798 on Build GRCh38
rs376342020 Chr.1: 231370644-231370644 on Build GRCh38
rs764265786 Chr.1: 231370538-231370539 on Build GRCh38
rs368903308 Chr.1: 231370690-231370690 on Build GRCh38
rs752961498 Chr.1: 231370680-231370680 on Build GRCh38
rs534713982 Chr.1: 231370627-231370627 on Build GRCh38
rs752515902 Chr.1: 231370557-231370557 on Build GRCh38
rs374316076 Chr.1: 231370528-231370528 on Build GRCh38
rs766086610 Chr.1: 231370724-231370724 on Build GRCh38
rs1041288968 Chr.1: 231370833-231370833 on Build GRCh38
rs773821769 Chr.1: 231370726-231370726 on Build GRCh38
rs143991968 Chr.1: 231370597-231370597 on Build GRCh38
rs772277193 Chr.1: 231370654-231370654 on Build GRCh38
rs754918567 Chr.1: 231370750-231370751 on Build GRCh38
rs766149641 Chr.1: 231370733-231370733 on Build GRCh38
rs537577767 Chr.1: 231370764-231370764 on Build GRCh38
rs762666408 Chr.1: 231370713-231370713 on Build GRCh38
rs746279366 Chr.1: 231370645-231370645 on Build GRCh38
rs920007920 Chr.1: 231370494-231370494 on Build GRCh38
rs756264599 Chr.1: 231370591-231370591 on Build GRCh38
rs940803335 Chr.1: 231370655-231370655 on Build GRCh38
rs866462820 Chr.1: 231370538-231370538 on Build GRCh38
rs747452281 Chr.1: 231370703-231370703 on Build GRCh38
rs992847622 Chr.1: 231370844-231370844 on Build GRCh38
rs577038014 Chr.1: 231370819-231370819 on Build GRCh38
rs200827505 Chr.1: 231370712-231370712 on Build GRCh38
rs119476044 Chr.1: 231370598-231370598 on Build GRCh38
rs980387090 Chr.1: 231370493-231370493 on Build GRCh38
rs772684927 Chr.1: 231370715-231370715 on Build GRCh38
rs781208436 Chr.1: 231370542-231370542 on Build GRCh38
rs931977107 Chr.1: 231370764-231370765 on Build GRCh38
rs146367075 Chr.1: 231370634-231370634 on Build GRCh38
rs2256908 Chr.1: 231370811-231370811 on Build GRCh38
rs119476045 Chr.1: 231370589-231370589 on Build GRCh38
rs185476774 Chr.1: 231370506-231370506 on Build GRCh38

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