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 | 1356 | NP_001073289.1 |
NM_001127461.2 | 4 | 1998 | NP_001120933.1 | |
NM_001127462.2 | 3 | 1964 | NP_001120934.1 | |
NM_001243133.1 | 3 | 1964 | NP_001230062.1 | |
NM_004895.4 | 3 | 1964 | NP_004886.3 | |
NM_183395.2 | 3 | 1964 | NP_899632.1 | |
XM_011544048.2 | 4 | 2103 | XP_011542350.1 | |
XM_011544053.2 | 4 | 1991 | XP_011542355.1 | |
XM_011544055.2 | 4 | 1991 | XP_011542357.1 | |
XM_017000181.1 | 5 | 1580 | XP_016855670.1 | |
XM_017000182.1 | 5 | 1525 | XP_016855671.1 | |
XM_017000183.1 | 4 | 1991 | XP_016855672.1 | |
XM_017000184.1 | 4 | 1991 | XP_016855673.1 | |
AB208891.1 | 3 | 1973 | BAD92128.1 | |
AF054176.1 | 1 | 43 | AAC39910.1 | |
AF410477.1 | 3 | 1964 | AAL33908.1 | |
AF418985.2 | 3 | 1380 | AAL14640.2 | |
AF420469.1 | 4 | 1350 | AAL65136.1 | |
AF427617.1 | 3 | 1964 | AAL33911.1 | |
AF468522.1 | 3 | 1380 | AAL78632.1 | |
AK027194.1 | 3 | 1393 | ||
AK314998.1 | 5 | 1356 | ||
AY092033.1 | 3 | 1380 | AAM14669.1 | |
AY422168.1 | 3 | 1212 | AAQ98889.1 | |
BC117211.1 | 3 | 1283 | ||
BC143359.1 | 3 | 1283 | ||
BC143362.1 | 3 | 1283 | ||
BC143363.1 | 3 | 1283 |
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 | LOC107985115 ZNF496 NLRP3 |
esv33129 | Chr.1:246911128 - 248165533 on Build GRCh38 | Gain+Loss | ZNF670-ZNF695 OR2M1P OR1C1 LOC107985115 OR6F1 GCSAML-AS1 GCSAML OR9H1P NLRP3 VN1R5 OR2G2 ZNF496 OR2T8 ZNF124 OR2M5 OR2L2 ZNF695 OR2L1P OR2AK2 ZNF670 OR2L13 C1orf229 TRIM58 OR14A16 OR2L3 OR2C3 MIR3916 AHCTF1 OR2G3 ZNF669 OR11L1 OR2W5 OR2L5 OR2B11 OR13G1 OR2W3 OR2L8 |
nsv1011097 | Chr.1:247402897 - 247503209 on Build GRCh38 | Gain | NLRP3 OR2W5 OR2B11 |
nsv509790 | Chr.1:247311000 - 247445876 on Build GRCh38 | Insertion | LOC107985115 ZNF496 NLRP3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |