Product Details

Primer Sequences
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Primer Chromosome Location
Chr.12: 88058736-88059234 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
4607567 c.6713C>A p.T2238K Chr.12: 88058953-88058953 on Build GRCh38
5732026 c.6754G>A p.E2252K Chr.12: 88058912-88058912 on Build GRCh38
1994783 c.6663G>T p.E2221D Chr.12: 88059003-88059003 on Build GRCh38
5841994 c.6646-2A>G p.? Chr.12: 88059022-88059022 on Build GRCh38
339315 c.6741A>T p.R2247S Chr.12: 88058925-88058925 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs748252457 Chr.12: 88058985-88058985 on Build GRCh38
rs747468034 Chr.12: 88058822-88058822 on Build GRCh38
rs769424557 Chr.12: 88059062-88059062 on Build GRCh38
rs570614266 Chr.12: 88058761-88058761 on Build GRCh38
rs761450698 Chr.12: 88059043-88059043 on Build GRCh38
rs1029427909 Chr.12: 88058844-88058844 on Build GRCh38
rs901304878 Chr.12: 88059084-88059084 on Build GRCh38
rs748162184 Chr.12: 88058839-88058839 on Build GRCh38
rs925228769 Chr.12: 88058826-88058826 on Build GRCh38
rs1004849902 Chr.12: 88059048-88059048 on Build GRCh38
rs377711472 Chr.12: 88058861-88058861 on Build GRCh38
rs750070359 Chr.12: 88058910-88058910 on Build GRCh38
rs550787945 Chr.12: 88058779-88058779 on Build GRCh38
rs958027781 Chr.12: 88059105-88059105 on Build GRCh38
rs997018203 Chr.12: 88059155-88059155 on Build GRCh38
rs569407190 Chr.12: 88059151-88059151 on Build GRCh38
rs578204537 Chr.12: 88059195-88059195 on Build GRCh38
rs200090371 Chr.12: 88058860-88058860 on Build GRCh38
rs773377240 Chr.12: 88058856-88058856 on Build GRCh38
rs978362109 Chr.12: 88059038-88059038 on Build GRCh38
rs376287216 Chr.12: 88058825-88058825 on Build GRCh38
rs935214183 Chr.12: 88058843-88058843 on Build GRCh38
rs988008920 Chr.12: 88058845-88058845 on Build GRCh38
rs756151890 Chr.12: 88058988-88058988 on Build GRCh38
rs377561473 Chr.12: 88058902-88058902 on Build GRCh38
rs905274239 Chr.12: 88058984-88058984 on Build GRCh38
rs373711746 Chr.12: 88058982-88058982 on Build GRCh38
rs765284400 Chr.12: 88058878-88058878 on Build GRCh38
rs781266350 Chr.12: 88058828-88058828 on Build GRCh38
rs775553764 Chr.12: 88058862-88058862 on Build GRCh38
rs778031524 Chr.12: 88058994-88058994 on Build GRCh38
rs751895513 Chr.12: 88058946-88058946 on Build GRCh38
rs367543543 Chr.12: 88059036-88059036 on Build GRCh38
rs544886883 Chr.12: 88059000-88059000 on Build GRCh38
rs776686514 Chr.12: 88059042-88059042 on Build GRCh38
rs921613251 Chr.12: 88058789-88058789 on Build GRCh38
rs770038302 Chr.12: 88058855-88058855 on Build GRCh38
rs772977529 Chr.12: 88059070-88059070 on Build GRCh38
rs1048414150 Chr.12: 88059018-88059018 on Build GRCh38
rs780652361 Chr.12: 88058820-88058820 on Build GRCh38
rs370956095 Chr.12: 88058810-88058810 on Build GRCh38
rs746777825 Chr.12: 88059020-88059020 on Build GRCh38
rs761362623 Chr.12: 88058836-88058837 on Build GRCh38
rs535571590 Chr.12: 88058875-88058875 on Build GRCh38
rs1036526215 Chr.12: 88058809-88058809 on Build GRCh38
rs976198535 Chr.12: 88058771-88058771 on Build GRCh38
rs766283104 Chr.12: 88059063-88059063 on Build GRCh38
rs77778467 Chr.12: 88058879-88058879 on Build GRCh38
rs755447230 Chr.12: 88058969-88058969 on Build GRCh38
rs148484148 Chr.12: 88058920-88058920 on Build GRCh38
rs766640788 Chr.12: 88058932-88058932 on Build GRCh38
rs371397659 Chr.12: 88058888-88058888 on Build GRCh38
rs758864226 Chr.12: 88058914-88058914 on Build GRCh38
rs953084294 Chr.12: 88058801-88058801 on Build GRCh38
rs760540562 Chr.12: 88058868-88058868 on Build GRCh38
rs923762331 Chr.12: 88059100-88059100 on Build GRCh38
rs953116737 Chr.12: 88059174-88059174 on Build GRCh38
rs753400138 Chr.12: 88058825-88058825 on Build GRCh38
rs771123241 Chr.12: 88058996-88058996 on Build GRCh38
rs1031941927 Chr.12: 88059209-88059209 on Build GRCh38
rs761358224 Chr.12: 88058887-88058887 on Build GRCh38
rs1028740757 Chr.12: 88059164-88059164 on Build GRCh38

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