Product Details

Primer Sequences
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Primer Chromosome Location
Chr.12: 88054127-88054542 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
7292310 c.6984T>G p.P2328P Chr.12: 88054390-88054390 on Build GRCh38
5563448 c.7031A>G p.Q2344R Chr.12: 88054349-88054349 on Build GRCh38
5563449 c.7025A>G p.Q2342R Chr.12: 88054349-88054349 on Build GRCh38
7292311 c.6990T>G p.P2330P Chr.12: 88054390-88054390 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs775641877 Chr.12: 88054396-88054396 on Build GRCh38
rs943317354 Chr.12: 88054465-88054465 on Build GRCh38
rs945955293 Chr.12: 88054441-88054441 on Build GRCh38
rs1052819339 Chr.12: 88054247-88054247 on Build GRCh38
rs773553673 Chr.12: 88054308-88054311 on Build GRCh38
rs145226421 Chr.12: 88054283-88054283 on Build GRCh38
rs772648931 Chr.12: 88054388-88054388 on Build GRCh38
rs933754766 Chr.12: 88054268-88054268 on Build GRCh38
rs1039324240 Chr.12: 88054481-88054481 on Build GRCh38
rs771239261 Chr.12: 88054460-88054462 on Build GRCh38
rs760630542 Chr.12: 88054417-88054417 on Build GRCh38
rs545319994 Chr.12: 88054310-88054310 on Build GRCh38
rs986528414 Chr.12: 88054277-88054277 on Build GRCh38
rs1016565378 Chr.12: 88054211-88054211 on Build GRCh38
rs766158824 Chr.12: 88054433-88054433 on Build GRCh38
rs771989237 Chr.12: 88054511-88054511 on Build GRCh38
rs551808127 Chr.12: 88054190-88054190 on Build GRCh38
rs970365916 Chr.12: 88054290-88054290 on Build GRCh38
rs533646871 Chr.12: 88054182-88054182 on Build GRCh38
rs746362703 Chr.12: 88054385-88054385 on Build GRCh38
rs561328474 Chr.12: 88054461-88054461 on Build GRCh38
rs907004921 Chr.12: 88054490-88054490 on Build GRCh38
rs553872153 Chr.12: 88054237-88054237 on Build GRCh38
rs570920075 Chr.12: 88054277-88054278 on Build GRCh38
rs762776921 Chr.12: 88054425-88054425 on Build GRCh38
rs555760333 Chr.12: 88054299-88054299 on Build GRCh38
rs1003375291 Chr.12: 88054495-88054495 on Build GRCh38
rs749716804 Chr.12: 88054354-88054354 on Build GRCh38
rs879618181 Chr.12: 88054520-88054520 on Build GRCh38
rs751559501 Chr.12: 88054439-88054439 on Build GRCh38
rs755798278 Chr.12: 88054312-88054312 on Build GRCh38
rs200969981 Chr.12: 88054359-88054359 on Build GRCh38
rs901648363 Chr.12: 88054195-88054195 on Build GRCh38
rs1011285873 Chr.12: 88054275-88054275 on Build GRCh38
rs763494178 Chr.12: 88054459-88054459 on Build GRCh38
rs766355279 Chr.12: 88054293-88054293 on Build GRCh38
rs962270519 Chr.12: 88054226-88054226 on Build GRCh38
rs779626256 Chr.12: 88054383-88054383 on Build GRCh38
rs201101574 Chr.12: 88054278-88054279 on Build GRCh38
rs777238434 Chr.12: 88054316-88054316 on Build GRCh38
rs863224794 Chr.12: 88054367-88054367 on Build GRCh38
rs770290173 Chr.12: 88054300-88054300 on Build GRCh38
rs184044181 Chr.12: 88054300-88054300 on Build GRCh38
rs759486805 Chr.12: 88054453-88054453 on Build GRCh38
rs952777472 Chr.12: 88054423-88054423 on Build GRCh38
rs201140440 Chr.12: 88054289-88054290 on Build GRCh38
rs780744253 Chr.12: 88054304-88054304 on Build GRCh38
rs923136797 Chr.12: 88054496-88054496 on Build GRCh38
rs566506592 Chr.12: 88054193-88054193 on Build GRCh38
rs573410940 Chr.12: 88054261-88054261 on Build GRCh38
rs923406042 Chr.12: 88054246-88054246 on Build GRCh38
rs958697122 Chr.12: 88054156-88054156 on Build GRCh38
rs527529973 Chr.12: 88054420-88054420 on Build GRCh38
rs768947002 Chr.12: 88054419-88054419 on Build GRCh38
rs541158737 Chr.12: 88054455-88054455 on Build GRCh38

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