Product Details

Primer Sequences

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Primer Chromosome Location

Chr.17: 5517693-5517940 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

NLRP1

Entrez Gene ID

22861

Gene Name

NLR family pyrin domain containing 1

Gene Aliases

CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, NAC, NALP1, PP1044, SLEV1, VAMAS1

UniGene

Hs.652273

Gene Chromosome Location

Chr.17: 5501399-5584512 on Build GRCh38

Transcripts

NM_001033053.2 NM_014922.4 NM_033004.3 NM_033006.3 NM_033007.3

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
6861593	c.4040A>T	p.E1347V	Chr.17: 5517763-5517763 on Build GRCh38
4707199	c.3963G>A	p.S1321S	Chr.17: 5517840-5517840 on Build GRCh38
6346566	c.3946C>A	p.R1316R	Chr.17: 5517869-5517869 on Build GRCh38
4707196	c.3973G>A	p.V1325I	Chr.17: 5517830-5517830 on Build GRCh38
4780128	c.4052A>G	p.E1351G	Chr.17: 5517763-5517763 on Build GRCh38
1147812	c.4067C>A	p.P1356Q	Chr.17: 5517748-5517748 on Build GRCh38
5926978	c.3916-1G>A	p.?	Chr.17: 5517888-5517888 on Build GRCh38
6449465	c.3969C>G	p.F1323L	Chr.17: 5517834-5517834 on Build GRCh38
1384661	c.3946G>T	p.E1316*	Chr.17: 5517857-5517857 on Build GRCh38
1147814	c.4051G>A	p.E1351K	Chr.17: 5517764-5517764 on Build GRCh38
5046538	c.3996G>T	p.L1332F	Chr.17: 5517819-5517819 on Build GRCh38
6346567	c.3934C>A	p.R1312R	Chr.17: 5517869-5517869 on Build GRCh38
7228321	c.4069+8C>G	p.?	Chr.17: 5517738-5517738 on Build GRCh38
6726985	c.4033G>A	p.D1345N	Chr.17: 5517782-5517782 on Build GRCh38
7228320	c.4057+8C>G	p.?	Chr.17: 5517738-5517738 on Build GRCh38
6219111	c.3947G>A	p.R1316Q	Chr.17: 5517868-5517868 on Build GRCh38
4707198	c.3975G>A	p.S1325S	Chr.17: 5517840-5517840 on Build GRCh38
1709649	c.4036G>A	p.E1346K	Chr.17: 5517779-5517779 on Build GRCh38
1709650	c.4024G>A	p.E1342K	Chr.17: 5517779-5517779 on Build GRCh38
4707195	c.3985G>A	p.V1329I	Chr.17: 5517830-5517830 on Build GRCh38
6147181	c.3986T>C	p.V1329A	Chr.17: 5517829-5517829 on Build GRCh38
981592	c.3962C>T	p.S1321L	Chr.17: 5517841-5517841 on Build GRCh38
1384660	c.3958G>T	p.E1320*	Chr.17: 5517857-5517857 on Build GRCh38
6726986	c.4021G>A	p.D1341N	Chr.17: 5517782-5517782 on Build GRCh38
981593	c.3934C>T	p.R1312*	Chr.17: 5517869-5517869 on Build GRCh38
4780129	c.4040A>G	p.E1347G	Chr.17: 5517763-5517763 on Build GRCh38
1589037	c.3974C>T	p.S1325L	Chr.17: 5517841-5517841 on Build GRCh38
1589035	c.3946C>T	p.R1316*	Chr.17: 5517869-5517869 on Build GRCh38
6861592	c.4052A>T	p.E1351V	Chr.17: 5517763-5517763 on Build GRCh38
706779	c.4055C>A	p.P1352Q	Chr.17: 5517748-5517748 on Build GRCh38
6219112	c.3935G>A	p.R1312Q	Chr.17: 5517868-5517868 on Build GRCh38
706778	c.4039G>A	p.E1347K	Chr.17: 5517764-5517764 on Build GRCh38
5926977	c.3928-1G>A	p.?	Chr.17: 5517888-5517888 on Build GRCh38
5046539	c.3984G>T	p.L1328F	Chr.17: 5517819-5517819 on Build GRCh38
6449464	c.3981C>G	p.F1327L	Chr.17: 5517834-5517834 on Build GRCh38
6147182	c.3974T>C	p.V1325A	Chr.17: 5517829-5517829 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs749521716	Chr.17: 5517807-5517807 on Build GRCh38
rs778222806	Chr.17: 5517792-5517792 on Build GRCh38
rs781601159	Chr.17: 5517746-5517746 on Build GRCh38
rs7223953	Chr.17: 5517721-5517721 on Build GRCh38
rs190095941	Chr.17: 5517738-5517738 on Build GRCh38
rs766791576	Chr.17: 5517898-5517898 on Build GRCh38
rs774689496	Chr.17: 5517823-5517823 on Build GRCh38
rs953855584	Chr.17: 5517831-5517831 on Build GRCh38
rs144711602	Chr.17: 5517830-5517830 on Build GRCh38
rs1020897098	Chr.17: 5517804-5517804 on Build GRCh38
rs201385462	Chr.17: 5517858-5517858 on Build GRCh38
rs201583715	Chr.17: 5517761-5517761 on Build GRCh38
rs756567141	Chr.17: 5517777-5517777 on Build GRCh38
rs771346182	Chr.17: 5517825-5517825 on Build GRCh38
rs754501197	Chr.17: 5517745-5517745 on Build GRCh38
rs902324390	Chr.17: 5517821-5517821 on Build GRCh38
rs748646281	Chr.17: 5517774-5517774 on Build GRCh38
rs765031318	Chr.17: 5517857-5517857 on Build GRCh38
rs147885770	Chr.17: 5517832-5517832 on Build GRCh38
rs772159137	Chr.17: 5517836-5517836 on Build GRCh38
rs551457068	Chr.17: 5517909-5517909 on Build GRCh38
rs1010853454	Chr.17: 5517785-5517785 on Build GRCh38
rs761691866	Chr.17: 5517852-5517852 on Build GRCh38
rs754489472	Chr.17: 5517869-5517869 on Build GRCh38
rs199808820	Chr.17: 5517861-5517861 on Build GRCh38
rs1054019727	Chr.17: 5517784-5517784 on Build GRCh38
rs766081243	Chr.17: 5517866-5517866 on Build GRCh38
rs765377790	Chr.17: 5517868-5517868 on Build GRCh38
rs1012797266	Chr.17: 5517816-5517816 on Build GRCh38
rs540375101	Chr.17: 5517729-5517729 on Build GRCh38
rs201563922	Chr.17: 5517915-5517915 on Build GRCh38
rs749727136	Chr.17: 5517916-5517916 on Build GRCh38
rs199687052	Chr.17: 5517829-5517829 on Build GRCh38
rs1026829338	Chr.17: 5517910-5517910 on Build GRCh38
rs368035024	Chr.17: 5517716-5517716 on Build GRCh38
rs764978308	Chr.17: 5517718-5517718 on Build GRCh38
rs62072728	Chr.17: 5517896-5517896 on Build GRCh38
rs776467398	Chr.17: 5517840-5517840 on Build GRCh38
rs200713360	Chr.17: 5517881-5517881 on Build GRCh38
rs141522655	Chr.17: 5517873-5517873 on Build GRCh38

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