Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 231373834-231374312 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
5576613 c.920G>A p.G307E Chr.1: 231374071-231374071 on Build GRCh38
6652302 c.941T>A p.V314D Chr.1: 231374050-231374050 on Build GRCh38
7268062 c.935G>A p.R312H Chr.1: 231374056-231374056 on Build GRCh38
5772345 c.1011+3A>T p.? Chr.1: 231373977-231373977 on Build GRCh38
6652301 c.911C>T p.P304L Chr.1: 231374080-231374080 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs769118636 Chr.1: 231374045-231374045 on Build GRCh38
rs757636837 Chr.1: 231374116-231374116 on Build GRCh38
rs760736344 Chr.1: 231374133-231374133 on Build GRCh38
rs187860642 Chr.1: 231373941-231373941 on Build GRCh38
rs989489581 Chr.1: 231374146-231374146 on Build GRCh38
rs542924332 Chr.1: 231374056-231374056 on Build GRCh38
rs563029310 Chr.1: 231374271-231374271 on Build GRCh38
rs192692822 Chr.1: 231374270-231374270 on Build GRCh38
rs752212942 Chr.1: 231373949-231373949 on Build GRCh38
rs540308901 Chr.1: 231374197-231374197 on Build GRCh38
rs957011602 Chr.1: 231374126-231374126 on Build GRCh38
rs941246559 Chr.1: 231373868-231373868 on Build GRCh38
rs747561523 Chr.1: 231374019-231374019 on Build GRCh38
rs528412168 Chr.1: 231374112-231374112 on Build GRCh38
rs560321810 Chr.1: 231374263-231374263 on Build GRCh38
rs753941321 Chr.1: 231373963-231373963 on Build GRCh38
rs201523464 Chr.1: 231374067-231374067 on Build GRCh38
rs199507950 Chr.1: 231373973-231373973 on Build GRCh38
rs1029425498 Chr.1: 231373983-231373983 on Build GRCh38
rs958289483 Chr.1: 231374200-231374201 on Build GRCh38
rs367641135 Chr.1: 231373956-231373956 on Build GRCh38
rs866641142 Chr.1: 231374068-231374068 on Build GRCh38
rs750949110 Chr.1: 231373932-231373935 on Build GRCh38
rs774056264 Chr.1: 231374066-231374066 on Build GRCh38
rs374733352 Chr.1: 231374016-231374016 on Build GRCh38
rs74143815 Chr.1: 231374180-231374180 on Build GRCh38
rs758796600 Chr.1: 231373998-231373998 on Build GRCh38
rs138715004 Chr.1: 231373919-231373919 on Build GRCh38
rs560996946 Chr.1: 231374074-231374074 on Build GRCh38
rs981601040 Chr.1: 231374196-231374196 on Build GRCh38
rs929987183 Chr.1: 231373886-231373889 on Build GRCh38
rs753779389 Chr.1: 231374144-231374144 on Build GRCh38
rs538506148 Chr.1: 231374134-231374134 on Build GRCh38
rs746020646 Chr.1: 231373992-231373992 on Build GRCh38
rs767401448 Chr.1: 231374088-231374088 on Build GRCh38
rs748954220 Chr.1: 231374105-231374110 on Build GRCh38
rs764158356 Chr.1: 231374135-231374135 on Build GRCh38
rs575848078 Chr.1: 231374130-231374130 on Build GRCh38
rs141850369 Chr.1: 231374267-231374267 on Build GRCh38
rs918674297 Chr.1: 231374285-231374285 on Build GRCh38
rs982656322 Chr.1: 231374281-231374281 on Build GRCh38
rs780721507 Chr.1: 231373947-231373948 on Build GRCh38
rs775405566 Chr.1: 231374119-231374119 on Build GRCh38
rs756109538 Chr.1: 231373948-231373948 on Build GRCh38
rs746365107 Chr.1: 231374147-231374150 on Build GRCh38
rs777508701 Chr.1: 231373965-231373968 on Build GRCh38
rs770288705 Chr.1: 231374059-231374059 on Build GRCh38
rs80358193 Chr.1: 231374041-231374041 on Build GRCh38
rs991074035 Chr.1: 231374243-231374243 on Build GRCh38
rs368119505 Chr.1: 231374150-231374150 on Build GRCh38
rs748814440 Chr.1: 231374057-231374057 on Build GRCh38
rs779205486 Chr.1: 231374126-231374127 on Build GRCh38
rs755707382 Chr.1: 231373956-231373956 on Build GRCh38
rs767148286 Chr.1: 231373931-231373931 on Build GRCh38
rs777082260 Chr.1: 231374052-231374052 on Build GRCh38
rs376138637 Chr.1: 231373965-231373965 on Build GRCh38

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