Name: [Hs00321067_cn] [NLRP3]
Creator: Thermo Fisher Scientific
Keywords: [NLRP3] Assay, [NLR family pyrin domain containing 3] Assay

Genomic Map

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Assay Details

Entrez Gene ID:	114548
Gene Name:	NLR family pyrin domain containing 3
Gene Aliases:	AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, FCAS, FCAS1, FCU, MWS, NALP3, PYPAF1
Location:	Chr.1:247416156-247449108 on Build GRCh38
Assay Gene Location:	Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NLRP3	NM_001079821.2	5	1010	NP_001073289.1
	NM_001127461.2	4	1652	NP_001120933.1
	NM_001127462.2	3	1618	NP_001120934.1
	NM_001243133.1	3	1618	NP_001230062.1
	NM_004895.4	3	1618	NP_004886.3
	NM_183395.2	3	1618	NP_899632.1
	XM_011544048.2	4	1757	XP_011542350.1
	XM_011544053.2	4	1645	XP_011542355.1
	XM_011544055.2	4	1645	XP_011542357.1
	XM_017000181.1	5	1234	XP_016855670.1
	XM_017000182.1	5	1179	XP_016855671.1
	XM_017000183.1	4	1645	XP_016855672.1
	XM_017000184.1	4	1645	XP_016855673.1
	AB208891.1	3	1627	BAD92128.1
	AF410477.1	3	1618	AAL33908.1
	AF418985.2	3	1034	AAL14640.2
	AF420469.1	4	1004	AAL65136.1
	AF427617.1	3	1618	AAL33911.1
	AF468522.1	3	1034	AAL78632.1
	AK027194.1	3	1047
	AK314998.1	5	1010
	AY092033.1	3	1034	AAM14669.1
	AY422168.1	3	866	AAQ98889.1
	BC117211.1	3	937
	BC143359.1	3	937
	BC143362.1	3	937
	BC143363.1	3	937

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv833137	Chr.1:247274015 - 247444126 on Build GRCh38	Gain	ZNF496 LOC107985115 NLRP3
esv33129	Chr.1:246911128 - 248165533 on Build GRCh38	Gain+Loss	ZNF670-ZNF695 OR9H1P MIR3916 OR1C1 OR2AK2 ZNF695 ZNF124 TRIM58 OR2B11 OR2M1P OR11L1 OR2L2 OR2G2 ZNF496 VN1R5 OR13G1 OR2C3 OR2G3 OR2W5 GCSAML-AS1 ZNF670 OR2L13 OR2W3 OR2L3 OR2T8 OR6F1 LOC107985115 OR2M5 OR2L1P GCSAML AHCTF1 OR2L5 ZNF669 C1orf229 OR14A16 NLRP3 OR2L8
nsv1011097	Chr.1:247402897 - 247503209 on Build GRCh38	Gain	OR2B11 OR2W5 NLRP3
nsv509790	Chr.1:247311000 - 247445876 on Build GRCh38	Insertion	ZNF496 LOC107985115 NLRP3