Assay Details
Target Gene 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 | 1673 | NP_001073289.1 |
NM_001127461.2 | 4 | 2315 | NP_001120933.1 | |
NM_001127462.2 | 3 | 2281 | NP_001120934.1 | |
NM_001243133.1 | 3 | 2281 | NP_001230062.1 | |
NM_004895.4 | 3 | 2281 | NP_004886.3 | |
NM_183395.2 | 3 | 2281 | NP_899632.1 | |
XM_011544048.2 | 4 | 2420 | XP_011542350.1 | |
XM_011544053.2 | 4 | 2308 | XP_011542355.1 | |
XM_011544055.2 | 4 | 2308 | XP_011542357.1 | |
XM_017000181.1 | 5 | 1897 | XP_016855670.1 | |
XM_017000182.1 | 5 | 1842 | XP_016855671.1 | |
XM_017000183.1 | 4 | 2308 | XP_016855672.1 | |
XM_017000184.1 | 4 | 2308 | XP_016855673.1 | |
AB208891.1 | 3 | 2290 | BAD92128.1 | |
AF054176.1 | 1 | 360 | AAC39910.1 | |
AF410477.1 | 3 | 2281 | AAL33908.1 | |
AF418985.2 | 3 | 1697 | AAL14640.2 | |
AF420469.1 | 4 | 1667 | AAL65136.1 | |
AF427617.1 | 3 | 2281 | AAL33911.1 | |
AF468522.1 | 3 | 1697 | AAL78632.1 | |
AK027194.1 | 3 | 1710 | ||
AK314998.1 | 5 | 1673 | ||
AY092033.1 | 3 | 1697 | AAM14669.1 | |
AY422168.1 | 3 | 1529 | AAQ98889.1 | |
BC117211.1 | 3 | 1600 | ||
BC143359.1 | 3 | 1600 | ||
BC143362.1 | 3 | 1600 | ||
BC143363.1 | 3 | 1600 |
Target Copy Number Variation Details
DGV Version: |
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 OR2W3 OR2B11 OR2M5 MIR3916 GCSAML OR1C1 C1orf229 OR2L5 ZNF695 NLRP3 VN1R5 OR2W5 ZNF496 OR2L13 OR2C3 OR2L3 TRIM58 OR2AK2 OR2M1P OR13G1 OR2T8 OR2L8 OR11L1 OR9H1P ZNF669 OR2G3 OR6F1 ZNF124 OR2L1P AHCTF1 LOC107985115 OR2L2 OR14A16 ZNF670 GCSAML-AS1 OR2G2 |
nsv1011097 | Chr.1:247402897 - 247503209 on Build GRCh38 | Gain | OR2W5 OR2B11 NLRP3 |
nsv509790 | Chr.1:247311000 - 247445876 on Build GRCh38 | Insertion | ZNF496 LOC107985115 NLRP3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |