Product Details

Primer Sequences
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Primer Chromosome Location
Chr.12: 88059909-88060178 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
1994785 c.6634G>A p.E2212K Chr.12: 88059909-88059909 on Build GRCh38
5841996 c.6628C>T p.R2210C Chr.12: 88059915-88059915 on Build GRCh38
6392806 c.6639A>T p.K2213N Chr.12: 88059910-88059910 on Build GRCh38
7233388 c.6596C>T p.T2199I Chr.12: 88059947-88059947 on Build GRCh38
5620474 c.6631C>A p.L2211I Chr.12: 88059918-88059918 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs770515697 Chr.12: 88059990-88059990 on Build GRCh38
rs761172645 Chr.12: 88060032-88060032 on Build GRCh38
rs954082831 Chr.12: 88060038-88060038 on Build GRCh38
rs767850697 Chr.12: 88060011-88060011 on Build GRCh38
rs989402960 Chr.12: 88060125-88060125 on Build GRCh38
rs910682063 Chr.12: 88060109-88060109 on Build GRCh38
rs779145328 Chr.12: 88059944-88059944 on Build GRCh38
rs757449880 Chr.12: 88059937-88059937 on Build GRCh38
rs762488968 Chr.12: 88059989-88059989 on Build GRCh38
rs985407772 Chr.12: 88060064-88060064 on Build GRCh38
rs535765861 Chr.12: 88059996-88059996 on Build GRCh38
rs751359519 Chr.12: 88060035-88060037 on Build GRCh38
rs371858276 Chr.12: 88059986-88059986 on Build GRCh38
rs944790301 Chr.12: 88060129-88060129 on Build GRCh38
rs375105314 Chr.12: 88060034-88060034 on Build GRCh38
rs779782832 Chr.12: 88060030-88060033 on Build GRCh38
rs769798212 Chr.12: 88059972-88059972 on Build GRCh38
rs752999358 Chr.12: 88060030-88060030 on Build GRCh38
rs772603458 Chr.12: 88059985-88059985 on Build GRCh38
rs976826367 Chr.12: 88060033-88060033 on Build GRCh38
rs759956779 Chr.12: 88060009-88060009 on Build GRCh38
rs1001862904 Chr.12: 88059946-88059946 on Build GRCh38
rs758329611 Chr.12: 88059939-88059939 on Build GRCh38
rs368428115 Chr.12: 88059971-88059971 on Build GRCh38
rs1040451392 Chr.12: 88060141-88060141 on Build GRCh38
rs534542740 Chr.12: 88060085-88060085 on Build GRCh38
rs936228027 Chr.12: 88060100-88060100 on Build GRCh38
rs746828188 Chr.12: 88059952-88059952 on Build GRCh38
rs1033637356 Chr.12: 88059951-88059951 on Build GRCh38
rs1034662310 Chr.12: 88059974-88059974 on Build GRCh38
rs913360747 Chr.12: 88060134-88060134 on Build GRCh38
rs764543873 Chr.12: 88060037-88060037 on Build GRCh38
rs794727692 Chr.12: 88060026-88060026 on Build GRCh38
rs779278850 Chr.12: 88060060-88060060 on Build GRCh38
rs768539400 Chr.12: 88059963-88059963 on Build GRCh38
rs753883649 Chr.12: 88060053-88060053 on Build GRCh38

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