Product Details

Primer Sequences

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Primer Chromosome Location

Chr.9: 136496143-136496286 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

NOTCH1

Entrez Gene ID

4851

Gene Name

notch 1

Gene Aliases

AOS5, AOVD1, TAN1, hN1

UniGene

Hs.495473

Gene Chromosome Location

Chr.9: 136494433-136545786 on Build GRCh38

Transcripts

NM_017617.4 XM_011518717.2

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
13080	c.7516G>T	p.E2506*	Chr.9: 136496223-136496223 on Build GRCh38
5609591	c.7550C>T	p.P2517L	Chr.9: 136496189-136496189 on Build GRCh38
28754	c.7560G>A	p.W2520*	Chr.9: 136496179-136496179 on Build GRCh38
7001953	c.7509_7510ins10	p.V2504fs*6	Chr.9: 136496229-136496230 on Build GRCh38
7000779	c.7528C>T	p.L2510F	Chr.9: 136496211-136496211 on Build GRCh38
33767	c.7515T>A	p.P2505P	Chr.9: 136496224-136496224 on Build GRCh38
27438	c.7548_7549ins13	p.P2517fs*6	Chr.9: 136496190-136496191 on Build GRCh38
1235469	c.7519_7520insC	p.H2507fs*9	Chr.9: 136496219-136496220 on Build GRCh38
24674	c.7513_7515CCT>21	p.P2505>CD*	Chr.9: 136496224-136496226 on Build GRCh38
33758	c.7518_7537>TCTCCTACC	p.E2506fs*6	Chr.9: 136496202-136496221 on Build GRCh38
6903797	c.7503G>C	p.Q2501H	Chr.9: 136496236-136496236 on Build GRCh38
7338474	c.7516G>A	p.E2506K	Chr.9: 136496223-136496223 on Build GRCh38
6949015	c.7455_7456insC	p.S2486fs*21	Chr.9: 136496283-136496284 on Build GRCh38
1461107	c.7559G>A	p.W2520*	Chr.9: 136496180-136496180 on Build GRCh38
25258	c.7477_7478ins11	p.P2493fs*>67	Chr.9: 136496261-136496262 on Build GRCh38
5751299	c.7537_7538insC	p.E2515fs*1	Chr.9: 136496201-136496202 on Build GRCh38
3699560	c.7575G>A	p.P2525P	Chr.9: 136496164-136496164 on Build GRCh38
28670	c.7501C>T	p.Q2501*	Chr.9: 136496238-136496238 on Build GRCh38
5711198	c.7546T>G	p.S2516A	Chr.9: 136496193-136496193 on Build GRCh38
4775101	c.7475_7476insGAGGGAAG	p.P2493fs*>66	Chr.9: 136496263-136496264 on Build GRCh38
27928	c.7535C>T	p.P2512L	Chr.9: 136496204-136496204 on Build GRCh38
13071	c.7545_7554del10	p.E2515fs*>38	Chr.9: 136496185-136496194 on Build GRCh38
5751451	c.7535C>CT	p.S2513fs*3	Chr.9: 136496204-136496204 on Build GRCh38
5609581	c.7543G>A	p.E2515K	Chr.9: 136496196-136496196 on Build GRCh38
130398	c.7587C>T	p.V2529V	Chr.9: 136496152-136496152 on Build GRCh38
5880314	c.7541_7542insC	p.E2515fs*1	Chr.9: 136496197-136496198 on Build GRCh38
5546607	c.7584_7585insC	p.V2529fs*29	Chr.9: 136496154-136496155 on Build GRCh38
5751394	c.7474_7475insA	p.S2492fs*15	Chr.9: 136496264-136496265 on Build GRCh38
27923	c.7469_7470insAA	p.Y2490fs*1	Chr.9: 136496269-136496270 on Build GRCh38
5751981	c.7555C>CT	p.Q2519fs*>38	Chr.9: 136496184-136496184 on Build GRCh38
7349971	c.7470C>G	p.Y2490*	Chr.9: 136496269-136496269 on Build GRCh38
7001955	c.7507_7508insAGGT	p.P2505fs*3	Chr.9: 136496231-136496232 on Build GRCh38
13109	c.7515T>G	p.P2505P	Chr.9: 136496224-136496224 on Build GRCh38
5760560	c.7555C>T	p.Q2519*	Chr.9: 136496184-136496184 on Build GRCh38
28658	c.7457C>A	p.S2486*	Chr.9: 136496282-136496282 on Build GRCh38
24881	c.7470_7471insNN	p.S2491fs*>66	Chr.9: 136496268-136496269 on Build GRCh38
33759	c.7531_7541del11	p.T2511fs*1	Chr.9: 136496198-136496208 on Build GRCh38
13073	c.7535_7536insC	p.S2513fs*3	Chr.9: 136496203-136496204 on Build GRCh38
7000773	c.7595G>T	p.W2532L	Chr.9: 136496144-136496144 on Build GRCh38
4171872	c.7574C>T	p.P2525L	Chr.9: 136496165-136496165 on Build GRCh38
5752099	c.7524_7525insA	p.F2509fs*7	Chr.9: 136496214-136496215 on Build GRCh38
6936220	c.7541C>T	p.P2514L	Chr.9: 136496198-136496198 on Build GRCh38
6903799	c.7541C>G	p.P2514R	Chr.9: 136496198-136496198 on Build GRCh38
7210128	c.7502_7528del27	p.Q2501_F2509delQLQVPEHPF	Chr.9: 136496211-136496237 on Build GRCh38
29456	c.7555delC	p.Q2519fs*>37	Chr.9: 136496184-136496184 on Build GRCh38
6051509	c.7472C>A	p.S2491Y	Chr.9: 136496267-136496267 on Build GRCh38
6927894	c.7456_7457insGCCCCCCT	p.S2486fs*>73	Chr.9: 136496282-136496283 on Build GRCh38
5711200	c.7542_7543insC	p.E2515fs*4	Chr.9: 136496196-136496197 on Build GRCh38
28671	c.7475_7476insCTAACC	p.S2492_P2493ins*	Chr.9: 136496263-136496264 on Build GRCh38
6934032	c.7493C>T	p.P2498L	Chr.9: 136496246-136496246 on Build GRCh38
5546614	c.7495_7495delA	p.S2499fs*58	Chr.9: 136496244-136496244 on Build GRCh38
6956694	c.7527_7528delCC	p.L2510fs*5	Chr.9: 136496211-136496212 on Build GRCh38
3215797	c.7568C>T	p.S2523L	Chr.9: 136496171-136496171 on Build GRCh38
4745902	c.7543G>T	p.E2515*	Chr.9: 136496196-136496196 on Build GRCh38
1314638	c.7562C>T	p.S2521F	Chr.9: 136496177-136496177 on Build GRCh38
21917	c.7475_7502>13	p.S2492_Q2501>FS*	Chr.9: 136496237-136496264 on Build GRCh38
7000775	c.7594T>G	p.W2532G	Chr.9: 136496145-136496145 on Build GRCh38
6936968	c.7524_7525insC	p.F2509fs*7	Chr.9: 136496214-136496215 on Build GRCh38
13095	c.7476_7477ins11	p.P2493fs*>67	Chr.9: 136496262-136496263 on Build GRCh38
325116	c.7479T>G	p.P2493P	Chr.9: 136496260-136496260 on Build GRCh38
6903801	c.7573C>T	p.P2525S	Chr.9: 136496166-136496166 on Build GRCh38
133793	c.7589_7590insGCGG	p.D2531fs*>27	Chr.9: 136496149-136496150 on Build GRCh38
4707587	c.7455delC	p.S2486fs*>70	Chr.9: 136496284-136496284 on Build GRCh38
7350370	c.7459C>A	p.Q2487K	Chr.9: 136496280-136496280 on Build GRCh38
1731921	c.7459C>T	p.Q2487*	Chr.9: 136496280-136496280 on Build GRCh38
12777	c.7568C>A	p.S2523*	Chr.9: 136496171-136496171 on Build GRCh38
5711202	c.7529T>G	p.L2510R	Chr.9: 136496210-136496210 on Build GRCh38
4775137	c.7526T>C	p.F2509S	Chr.9: 136496213-136496213 on Build GRCh38
7001247	c.7521_7537del17	p.F2509fs*1	Chr.9: 136496202-136496218 on Build GRCh38
5751272	c.7534_7535insCGTCGGG	p.P2514fs*4	Chr.9: 136496204-136496205 on Build GRCh38
5751725	c.7543G>GT	p.E2515fs*4	Chr.9: 136496196-136496196 on Build GRCh38
133798	c.7586_7587insT	p.S2530fs*>27	Chr.9: 136496152-136496153 on Build GRCh38
13088	c.7519C>T	p.H2507Y	Chr.9: 136496220-136496220 on Build GRCh38
13065	c.7538_7539insGAGCGTC	p.P2514fs*4	Chr.9: 136496200-136496201 on Build GRCh38
5609569	c.7539C>T	p.S2513S	Chr.9: 136496200-136496200 on Build GRCh38
13079	c.7475C>A	p.S2492*	Chr.9: 136496264-136496264 on Build GRCh38
33761	c.7530C>T	p.L2510L	Chr.9: 136496209-136496209 on Build GRCh38
7001951	c.7546_7547insC	p.D2518fs*1	Chr.9: 136496192-136496193 on Build GRCh38
27936	c.7475_7476ins12	p.P2493_V2494ins*	Chr.9: 136496263-136496264 on Build GRCh38
1738007	c.7520A>G	p.H2507R	Chr.9: 136496219-136496219 on Build GRCh38
7000777	c.7529T>A	p.L2510H	Chr.9: 136496210-136496210 on Build GRCh38
6851668	c.7457C>T	p.S2486L	Chr.9: 136496282-136496282 on Build GRCh38
28669	c.7507C>T	p.Q2503*	Chr.9: 136496232-136496232 on Build GRCh38
29454	c.7535delC	p.P2512fs*>44	Chr.9: 136496204-136496204 on Build GRCh38
455606	c.7460A>T	p.Q2487L	Chr.9: 136496279-136496279 on Build GRCh38
6948979	c.7585G>A	p.V2529I	Chr.9: 136496154-136496154 on Build GRCh38
12774	c.7541_7542delCT	p.P2514fs*4	Chr.9: 136496197-136496198 on Build GRCh38
1106846	c.7458G>A	p.S2486S	Chr.9: 136496281-136496281 on Build GRCh38
7001249	c.7519_7529del11	p.F2509fs*3	Chr.9: 136496210-136496220 on Build GRCh38
6926709	c.7589C>G	p.S2530C	Chr.9: 136496150-136496150 on Build GRCh38
5751274	c.7530_7533delCACC	p.T2511fs*>44	Chr.9: 136496206-136496209 on Build GRCh38
6903803	c.7577A>G	p.H2526R	Chr.9: 136496162-136496162 on Build GRCh38
6973475	c.7480G>A	p.V2494M	Chr.9: 136496259-136496259 on Build GRCh38
3905743	c.7540C>A	p.P2514T	Chr.9: 136496199-136496199 on Build GRCh38
130397	c.7578T>A	p.H2526Q	Chr.9: 136496161-136496161 on Build GRCh38
5881367	c.7541C>T	p.P2514L	Chr.9: 136496199-136496199 on Build GRCh38
7346853	c.7522C>G	p.P2508A	Chr.9: 136496217-136496217 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs34152221	Chr.9: 136496224-136496224 on Build GRCh38
rs771410115	Chr.9: 136496185-136496185 on Build GRCh38
rs763016003	Chr.9: 136496197-136496198 on Build GRCh38
rs758931699	Chr.9: 136496200-136496200 on Build GRCh38
rs1034600983	Chr.9: 136496261-136496261 on Build GRCh38
rs777147718	Chr.9: 136496191-136496191 on Build GRCh38
rs534623042	Chr.9: 136496170-136496170 on Build GRCh38
rs763902589	Chr.9: 136496241-136496241 on Build GRCh38
rs751367016	Chr.9: 136496264-136496264 on Build GRCh38
rs375576856	Chr.9: 136496164-136496164 on Build GRCh38
rs952060677	Chr.9: 136496263-136496263 on Build GRCh38
rs567323027	Chr.9: 136496165-136496165 on Build GRCh38
rs192299793	Chr.9: 136496203-136496203 on Build GRCh38
rs868747222	Chr.9: 136496192-136496192 on Build GRCh38
rs757165853	Chr.9: 136496267-136496267 on Build GRCh38
rs752231663	Chr.9: 136496212-136496212 on Build GRCh38

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