Product Details

Primer Sequences

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Primer Chromosome Location

Chr.3: 152299986-152300506 on Build GRCh38 View in UCSC browser

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

MBNL1

Entrez Gene ID

4154

Gene Name

muscleblind like splicing regulator 1

Gene Aliases

EXP, MBNL

UniGene

Hs.201858

Gene Chromosome Location

Chr.3: 152243656-152465780 on Build GRCh38

Transcripts

NM_001314057.1 NM_021038.4 NM_207292.2 NM_207293.1 NM_207294.1 NM_207295.1 NM_207296.1 NM_207297.1 XM_005247457.4 XM_005247458.4 XM_005247460.4 XM_005247461.4 XM_005247462.4 XM_005247463.4 XM_005247464.4 XM_005247465.4 XM_005247466.4 XM_005247467.4 XM_005247468.4 XM_005247471.4 XM_005247474.3 XM_005247475.3 XM_005247476.4 XM_005247477.4 XM_006713639.1 XM_011512843.2 XM_011512845.2 XM_011512846.2 XM_011512847.2 XM_011512848.2 XM_011512849.2 XM_017006423.1 XM_017006424.1 XM_017006425.1 XM_017006426.1 XM_017006427.1 XM_017006428.1 XM_017006429.1 XM_017006430.1 XM_017006431.1 XM_017006432.1 XM_017006433.1 XM_017006434.1 XM_017006435.1 XM_017006436.1 XM_017006437.1 XM_017006438.1 XM_017006439.1 XM_017006440.1 XM_017006441.1 XM_017006442.1 XM_017006443.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
6262310	c.7G>T	p.V3F	Chr.3: 152300200-152300200 on Build GRCh38
392231	c.41delT	p.L14fs*37	Chr.3: 152300234-152300234 on Build GRCh38
1693624	c.158G>T	p.C53F	Chr.3: 152300351-152300351 on Build GRCh38
5708509	c.70_71insG	p.T26fs*10	Chr.3: 152300263-152300264 on Build GRCh38
361253	c.130C>G	p.Q44E	Chr.3: 152300323-152300323 on Build GRCh38
361255	c.130C>G	p.Q44E	Chr.3: 152300323-152300323 on Build GRCh38
4114566	c.174+1G>C	p.?	Chr.3: 152300368-152300368 on Build GRCh38
1214654	c.86G>A	p.R29Q	Chr.3: 152300279-152300279 on Build GRCh38
5708511	c.70_71insG	p.T26fs*10	Chr.3: 152300263-152300264 on Build GRCh38
7294890	c.174A>G	p.K58K	Chr.3: 152300367-152300367 on Build GRCh38
4825845	c.61G>T	p.E21*	Chr.3: 152300254-152300254 on Build GRCh38
6468573	c.72G>C	p.R24S	Chr.3: 152300265-152300265 on Build GRCh38
3003916	c.87G>A	p.R29R	Chr.3: 152300280-152300280 on Build GRCh38
6327032	c.74G>T	p.G25V	Chr.3: 152300267-152300267 on Build GRCh38
2152163	c.121delA	p.S42fs*9	Chr.3: 152300314-152300314 on Build GRCh38
3003910	c.66C>T	p.F22F	Chr.3: 152300259-152300259 on Build GRCh38
4114565	c.174+1G>C	p.?	Chr.3: 152300368-152300368 on Build GRCh38
2152162	c.121delA	p.S42fs*9	Chr.3: 152300314-152300314 on Build GRCh38
5974602	c.121A>C	p.K41Q	Chr.3: 152300314-152300314 on Build GRCh38
419762	c.25C>T	p.R9W	Chr.3: 152300218-152300218 on Build GRCh38
4825846	c.61G>T	p.E21*	Chr.3: 152300254-152300254 on Build GRCh38
7294892	c.174A>G	p.K58K	Chr.3: 152300367-152300367 on Build GRCh38
6999784	c.145C>T	p.R49*	Chr.3: 152300338-152300338 on Build GRCh38
3003917	c.87G>A	p.R29R	Chr.3: 152300280-152300280 on Build GRCh38
7001744	c.96_97insCCG	p.T32_E33insP	Chr.3: 152300289-152300290 on Build GRCh38
3003918	c.119C>T	p.S40L	Chr.3: 152300312-152300312 on Build GRCh38
5115153	c.41T>C	p.L14P	Chr.3: 152300234-152300234 on Build GRCh38
3003911	c.66C>T	p.F22F	Chr.3: 152300259-152300259 on Build GRCh38
419761	c.25C>T	p.R9W	Chr.3: 152300218-152300218 on Build GRCh38
6262309	c.7G>T	p.V3F	Chr.3: 152300200-152300200 on Build GRCh38
3003912	c.69G>A	p.Q23Q	Chr.3: 152300262-152300262 on Build GRCh38
1214652	c.86G>A	p.R29Q	Chr.3: 152300279-152300279 on Build GRCh38
1040071	c.120G>A	p.S40S	Chr.3: 152300313-152300313 on Build GRCh38
1214656	c.131A>G	p.Q44R	Chr.3: 152300324-152300324 on Build GRCh38
7001743	c.96_97insCCG	p.T32_E33insP	Chr.3: 152300289-152300290 on Build GRCh38
4826157	c.69G>T	p.Q23H	Chr.3: 152300262-152300262 on Build GRCh38
479595	c.85C>T	p.R29W	Chr.3: 152300278-152300278 on Build GRCh38
1040069	c.120G>A	p.S40S	Chr.3: 152300313-152300313 on Build GRCh38
79223	c.83C>G	p.S28*	Chr.3: 152300276-152300276 on Build GRCh38
4114567	c.174+1G>C	p.?	Chr.3: 152300368-152300368 on Build GRCh38
6327031	c.74G>T	p.G25V	Chr.3: 152300267-152300267 on Build GRCh38
392229	c.41delT	p.L14fs*37	Chr.3: 152300234-152300234 on Build GRCh38
1214657	c.131A>G	p.Q44R	Chr.3: 152300324-152300324 on Build GRCh38
1693625	c.158G>T	p.C53F	Chr.3: 152300351-152300351 on Build GRCh38
392230	c.41delT	p.L14fs*37	Chr.3: 152300234-152300234 on Build GRCh38
79222	c.83C>G	p.S28*	Chr.3: 152300276-152300276 on Build GRCh38
5974601	c.121A>C	p.K41Q	Chr.3: 152300314-152300314 on Build GRCh38
479596	c.85C>T	p.R29W	Chr.3: 152300278-152300278 on Build GRCh38
5974600	c.121A>C	p.K41Q	Chr.3: 152300314-152300314 on Build GRCh38
6262311	c.7G>T	p.V3F	Chr.3: 152300200-152300200 on Build GRCh38
3003919	c.119C>T	p.S40L	Chr.3: 152300312-152300312 on Build GRCh38
419763	c.25C>T	p.R9W	Chr.3: 152300218-152300218 on Build GRCh38
1693626	c.158G>T	p.C53F	Chr.3: 152300351-152300351 on Build GRCh38
2152161	c.121delA	p.S42fs*9	Chr.3: 152300314-152300314 on Build GRCh38
3003913	c.69G>A	p.Q23Q	Chr.3: 152300262-152300262 on Build GRCh38
6468572	c.72G>C	p.R24S	Chr.3: 152300265-152300265 on Build GRCh38
3003920	c.119C>T	p.S40L	Chr.3: 152300312-152300312 on Build GRCh38
7001745	c.96_97insCCG	p.T32_E33insP	Chr.3: 152300289-152300290 on Build GRCh38
3427235	c.154G>A	p.A52T	Chr.3: 152300347-152300347 on Build GRCh38
4826159	c.69G>T	p.Q23H	Chr.3: 152300262-152300262 on Build GRCh38
6468571	c.72G>C	p.R24S	Chr.3: 152300265-152300265 on Build GRCh38
3003914	c.69G>A	p.Q23Q	Chr.3: 152300262-152300262 on Build GRCh38
3408356	c.74G>A	p.G25E	Chr.3: 152300267-152300267 on Build GRCh38
479597	c.85C>T	p.R29W	Chr.3: 152300278-152300278 on Build GRCh38
7294891	c.174A>G	p.K58K	Chr.3: 152300367-152300367 on Build GRCh38
6327030	c.74G>T	p.G25V	Chr.3: 152300267-152300267 on Build GRCh38
3003915	c.87G>A	p.R29R	Chr.3: 152300280-152300280 on Build GRCh38
4826158	c.69G>T	p.Q23H	Chr.3: 152300262-152300262 on Build GRCh38
3003909	c.66C>T	p.F22F	Chr.3: 152300259-152300259 on Build GRCh38
6999783	c.145C>T	p.R49*	Chr.3: 152300338-152300338 on Build GRCh38
6999782	c.145C>T	p.R49*	Chr.3: 152300338-152300338 on Build GRCh38
1214653	c.86G>A	p.R29Q	Chr.3: 152300279-152300279 on Build GRCh38
3427236	c.154G>A	p.A52T	Chr.3: 152300347-152300347 on Build GRCh38
5708510	c.70_71insG	p.T26fs*10	Chr.3: 152300263-152300264 on Build GRCh38
1214655	c.131A>G	p.Q44R	Chr.3: 152300324-152300324 on Build GRCh38
3427234	c.154G>A	p.A52T	Chr.3: 152300347-152300347 on Build GRCh38
3408357	c.74G>A	p.G25E	Chr.3: 152300267-152300267 on Build GRCh38
361254	c.130C>G	p.Q44E	Chr.3: 152300323-152300323 on Build GRCh38
3408355	c.74G>A	p.G25E	Chr.3: 152300267-152300267 on Build GRCh38
1040070	c.120G>A	p.S40S	Chr.3: 152300313-152300313 on Build GRCh38
4825844	c.61G>T	p.E21*	Chr.3: 152300254-152300254 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs760116131	Chr.3: 152300210-152300210 on Build GRCh38
rs763828262	Chr.3: 152300143-152300143 on Build GRCh38
rs770696564	Chr.3: 152300278-152300278 on Build GRCh38
rs867524518	Chr.3: 152300235-152300235 on Build GRCh38
rs771223286	Chr.3: 152300030-152300030 on Build GRCh38
rs750463887	Chr.3: 152300177-152300177 on Build GRCh38
rs189258831	Chr.3: 152300045-152300045 on Build GRCh38
rs750601139	Chr.3: 152300379-152300379 on Build GRCh38
rs773981630	Chr.3: 152300280-152300280 on Build GRCh38
rs17368446	Chr.3: 152300434-152300434 on Build GRCh38
rs941257182	Chr.3: 152300463-152300463 on Build GRCh38
rs1001880076	Chr.3: 152300168-152300168 on Build GRCh38
rs765381450	Chr.3: 152300346-152300346 on Build GRCh38
rs755516336	Chr.3: 152300401-152300401 on Build GRCh38
rs960413604	Chr.3: 152300437-152300437 on Build GRCh38
rs971856430	Chr.3: 152300176-152300176 on Build GRCh38
rs757442403	Chr.3: 152300167-152300167 on Build GRCh38
rs763578642	Chr.3: 152300275-152300275 on Build GRCh38
rs971889006	Chr.3: 152300473-152300473 on Build GRCh38
rs769170921	Chr.3: 152300226-152300226 on Build GRCh38
rs933849756	Chr.3: 152300410-152300410 on Build GRCh38
rs764837742	Chr.3: 152300183-152300183 on Build GRCh38
rs927714800	Chr.3: 152300141-152300141 on Build GRCh38
rs185894411	Chr.3: 152300288-152300288 on Build GRCh38
rs370857002	Chr.3: 152300169-152300169 on Build GRCh38
rs141393481	Chr.3: 152300214-152300214 on Build GRCh38
rs766438725	Chr.3: 152300385-152300385 on Build GRCh38
rs370778181	Chr.3: 152300402-152300402 on Build GRCh38
rs376731460	Chr.3: 152300238-152300238 on Build GRCh38
rs753410588	Chr.3: 152300312-152300312 on Build GRCh38
rs747466168	Chr.3: 152300215-152300215 on Build GRCh38
rs933819462	Chr.3: 152300068-152300068 on Build GRCh38
rs980523097	Chr.3: 152300105-152300105 on Build GRCh38
rs758976742	Chr.3: 152300282-152300282 on Build GRCh38
rs758425774	Chr.3: 152300381-152300381 on Build GRCh38
rs748521232	Chr.3: 152300419-152300419 on Build GRCh38
rs767870615	Chr.3: 152300094-152300094 on Build GRCh38
rs1022960687	Chr.3: 152300378-152300378 on Build GRCh38
rs375041852	Chr.3: 152300199-152300199 on Build GRCh38
rs753615521	Chr.3: 152300339-152300339 on Build GRCh38
rs919056569	Chr.3: 152300484-152300484 on Build GRCh38
rs180834822	Chr.3: 152300083-152300083 on Build GRCh38
rs565783469	Chr.3: 152300386-152300386 on Build GRCh38
rs775976769	Chr.3: 152300133-152300133 on Build GRCh38
rs1021924098	Chr.3: 152300073-152300073 on Build GRCh38
rs919179667	Chr.3: 152300187-152300187 on Build GRCh38
rs775313136	Chr.3: 152300302-152300302 on Build GRCh38
rs758436405	Chr.3: 152300209-152300209 on Build GRCh38
rs969065151	Chr.3: 152300382-152300382 on Build GRCh38
rs200628264	Chr.3: 152300201-152300201 on Build GRCh38
rs942739473	Chr.3: 152300026-152300026 on Build GRCh38
rs750142332	Chr.3: 152300377-152300381 on Build GRCh38
rs1039573057	Chr.3: 152300038-152300038 on Build GRCh38
rs1037961420	Chr.3: 152300138-152300138 on Build GRCh38
rs960549915	Chr.3: 152300163-152300163 on Build GRCh38
rs368507124	Chr.3: 152300109-152300109 on Build GRCh38
rs555382989	Chr.3: 152300148-152300148 on Build GRCh38
rs956948999	Chr.3: 152300019-152300019 on Build GRCh38
rs909920090	Chr.3: 152300268-152300268 on Build GRCh38
rs202116667	Chr.3: 152300193-152300193 on Build GRCh38
rs1039837012	Chr.3: 152300277-152300277 on Build GRCh38
rs762088936	Chr.3: 152300343-152300343 on Build GRCh38
rs774554649	Chr.3: 152300032-152300032 on Build GRCh38
rs74497536	Chr.3: 152300313-152300313 on Build GRCh38
rs764968337	Chr.3: 152300333-152300333 on Build GRCh38

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