Product Details

Primer Sequences
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Primer Chromosome Location
Chr.12: 88053517-88054019 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
CEP290
Entrez Gene ID
80184
Gene Name
centrosomal protein 290
Gene Aliases
3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16
UniGene
Hs.150444
Gene Chromosome Location
Chr.12: 88049013-88142216 on Build GRCh38
Transcripts
NM_025114.3 XM_011538756.2 XM_011538757.2 XM_011538758.2 XM_011538759.2 XM_011538760.1 XM_011538761.1 XM_011538762.2 XM_011538763.2 XM_011538766.2 XM_017019980.1 XM_017019981.1 XM_017019982.1 XM_017019983.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6385246 c.7114G>T p.E2372* Chr.12: 88053667-88053667 on Build GRCh38
5882355 c.7087C>A p.Q2363K Chr.12: 88053700-88053700 on Build GRCh38
6383152 c.7046C>A p.A2349D Chr.12: 88053741-88053741 on Build GRCh38
6383153 c.7040C>A p.A2347D Chr.12: 88053741-88053741 on Build GRCh38
4505991 c.7081C>T p.Q2361* Chr.12: 88053700-88053700 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs878896889 Chr.12: 88053700-88053700 on Build GRCh38
rs948881977 Chr.12: 88053559-88053559 on Build GRCh38
rs749634484 Chr.12: 88053743-88053743 on Build GRCh38
rs375548374 Chr.12: 88053733-88053733 on Build GRCh38
rs779928520 Chr.12: 88053640-88053640 on Build GRCh38
rs375374529 Chr.12: 88053790-88053790 on Build GRCh38
rs955651633 Chr.12: 88053942-88053942 on Build GRCh38
rs1010286620 Chr.12: 88053765-88053765 on Build GRCh38
rs540340404 Chr.12: 88053657-88053657 on Build GRCh38
rs759725378 Chr.12: 88053711-88053711 on Build GRCh38
rs183387506 Chr.12: 88053706-88053706 on Build GRCh38
rs573347891 Chr.12: 88053773-88053773 on Build GRCh38
rs533462288 Chr.12: 88053803-88053803 on Build GRCh38
rs980669610 Chr.12: 88053606-88053606 on Build GRCh38
rs918362460 Chr.12: 88053958-88053958 on Build GRCh38
rs188493433 Chr.12: 88053934-88053934 on Build GRCh38
rs878968763 Chr.12: 88053615-88053615 on Build GRCh38
rs748170262 Chr.12: 88053769-88053770 on Build GRCh38
rs929245981 Chr.12: 88053836-88053836 on Build GRCh38
rs79243758 Chr.12: 88053962-88053962 on Build GRCh38
rs201801456 Chr.12: 88053698-88053698 on Build GRCh38
rs770118869 Chr.12: 88053686-88053686 on Build GRCh38
rs565102249 Chr.12: 88053919-88053919 on Build GRCh38
rs1021912695 Chr.12: 88053979-88053979 on Build GRCh38
rs114920093 Chr.12: 88053547-88053547 on Build GRCh38
rs547853229 Chr.12: 88053829-88053829 on Build GRCh38
rs754462052 Chr.12: 88053655-88053655 on Build GRCh38
rs866712549 Chr.12: 88053721-88053721 on Build GRCh38
rs981874567 Chr.12: 88053823-88053823 on Build GRCh38
rs957163386 Chr.12: 88053724-88053724 on Build GRCh38
rs746547356 Chr.12: 88053654-88053654 on Build GRCh38
rs997889774 Chr.12: 88053696-88053696 on Build GRCh38
rs747836241 Chr.12: 88053670-88053670 on Build GRCh38
rs752165328 Chr.12: 88053854-88053854 on Build GRCh38
rs886042734 Chr.12: 88053718-88053719 on Build GRCh38
rs1048929092 Chr.12: 88053860-88053860 on Build GRCh38
rs562401153 Chr.12: 88053837-88053837 on Build GRCh38
rs774974014 Chr.12: 88053710-88053710 on Build GRCh38
rs536688482 Chr.12: 88053987-88053987 on Build GRCh38
rs796608841 Chr.12: 88053889-88053889 on Build GRCh38
rs760964107 Chr.12: 88053746-88053746 on Build GRCh38
rs777745080 Chr.12: 88053980-88053980 on Build GRCh38
rs372674637 Chr.12: 88053579-88053579 on Build GRCh38
rs80290148 Chr.12: 88053928-88053928 on Build GRCh38
rs764153212 Chr.12: 88053757-88053757 on Build GRCh38
rs928776519 Chr.12: 88053693-88053693 on Build GRCh38
rs756068128 Chr.12: 88053965-88053965 on Build GRCh38
rs369522912 Chr.12: 88053782-88053782 on Build GRCh38
rs914745783 Chr.12: 88053558-88053558 on Build GRCh38
rs1039259969 Chr.12: 88053897-88053897 on Build GRCh38
rs766016762 Chr.12: 88053699-88053699 on Build GRCh38
rs45477492 Chr.12: 88053784-88053784 on Build GRCh38
rs909386005 Chr.12: 88053913-88053913 on Build GRCh38
rs773642190 Chr.12: 88053687-88053687 on Build GRCh38
rs1034324588 Chr.12: 88053834-88053834 on Build GRCh38
rs577636511 Chr.12: 88053576-88053576 on Build GRCh38
rs150353864 Chr.12: 88053886-88053886 on Build GRCh38
rs901621711 Chr.12: 88053900-88053900 on Build GRCh38
rs531502015 Chr.12: 88053861-88053861 on Build GRCh38
rs1006780282 Chr.12: 88053702-88053702 on Build GRCh38
rs767697315 Chr.12: 88053715-88053715 on Build GRCh38
rs61940997 Chr.12: 88053643-88053643 on Build GRCh38

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