Product Details

Primer Sequences
Log in to view
Primer Chromosome Location
Chr.12: 88055641-88055890 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
695524 c.6886C>A p.L2296I Chr.12: 88055650-88055650 on Build GRCh38
6245408 c.6898C>A p.Q2300K Chr.12: 88055644-88055644 on Build GRCh38
7360903 c.6892C>T p.L2298F Chr.12: 88055650-88055650 on Build GRCh38
6245409 c.6892C>A p.Q2298K Chr.12: 88055644-88055644 on Build GRCh38
6537784 c.6841G>C p.E2281Q Chr.12: 88055695-88055695 on Build GRCh38
View More

SNP Detail

SNP ID Chromosome Location
rs141928749 Chr.12: 88055720-88055720 on Build GRCh38
rs943640988 Chr.12: 88055820-88055820 on Build GRCh38
rs572279480 Chr.12: 88055742-88055742 on Build GRCh38
rs973231335 Chr.12: 88055713-88055713 on Build GRCh38
rs763494907 Chr.12: 88055707-88055707 on Build GRCh38
rs915755840 Chr.12: 88055683-88055683 on Build GRCh38
rs1046711755 Chr.12: 88055799-88055799 on Build GRCh38
rs941609264 Chr.12: 88055813-88055813 on Build GRCh38
rs150241790 Chr.12: 88055727-88055727 on Build GRCh38
rs916920143 Chr.12: 88055775-88055775 on Build GRCh38
rs929677833 Chr.12: 88055787-88055787 on Build GRCh38
rs867928186 Chr.12: 88055729-88055729 on Build GRCh38
rs760294599 Chr.12: 88055686-88055686 on Build GRCh38
rs1051786139 Chr.12: 88055772-88055772 on Build GRCh38
rs991777856 Chr.12: 88055679-88055679 on Build GRCh38
rs748697147 Chr.12: 88055778-88055778 on Build GRCh38
rs759228151 Chr.12: 88055741-88055741 on Build GRCh38
rs750838874 Chr.12: 88055751-88055751 on Build GRCh38
rs756974090 Chr.12: 88055740-88055740 on Build GRCh38
rs941877869 Chr.12: 88055710-88055710 on Build GRCh38
rs910148735 Chr.12: 88055803-88055803 on Build GRCh38

View Full Product Details