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 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NLRP3 | NM_001079821.2 | NP_001073289.1 | ||
NM_001127461.2 | 2 | 744 | NP_001120933.1 | |
NM_001127462.2 | 1 | 710 | NP_001120934.1 | |
NM_001243133.1 | 1 | 710 | NP_001230062.1 | |
NM_004895.4 | 1 | 710 | NP_004886.3 | |
NM_183395.2 | 1 | 710 | NP_899632.1 | |
XM_011544048.2 | 2 | 849 | XP_011542350.1 | |
XM_011544053.2 | 2 | 737 | XP_011542355.1 | |
XM_011544055.2 | 2 | 737 | XP_011542357.1 | |
XM_017000181.1 | 3 | 326 | XP_016855670.1 | |
XM_017000182.1 | XP_016855671.1 | |||
XM_017000183.1 | 2 | 737 | XP_016855672.1 | |
XM_017000184.1 | 2 | 737 | XP_016855673.1 | |
AB208891.1 | 1 | 719 | BAD92128.1 | |
AF410477.1 | 1 | 710 | AAL33908.1 | |
AF418985.2 | 1 | 126 | AAL14640.2 | |
AF420469.1 | AAL65136.1 | |||
AF427617.1 | 1 | 710 | AAL33911.1 | |
AF468522.1 | 1 | 126 | AAL78632.1 | |
AK027194.1 | 1 | 139 | ||
AK314998.1 | ||||
AY092033.1 | 1 | 126 | AAM14669.1 | |
AY422168.1 | AAQ98889.1 | |||
BC117211.1 | ||||
BC143359.1 | ||||
BC143362.1 | ||||
BC143363.1 | ||||
DA244290.1 |
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 LOC107985115 OR2G2 OR2M1P OR2W3 OR2C3 C1orf229 ZNF695 MIR3916 NLRP3 OR2L5 GCSAML-AS1 OR2L3 VN1R5 GCSAML OR2G3 OR2AK2 OR11L1 TRIM58 AHCTF1 OR13G1 OR2L13 OR6F1 OR2L2 ZNF124 OR2L1P OR1C1 OR2B11 OR2M5 ZNF496 ZNF669 OR9H1P OR2L8 OR14A16 ZNF670 OR2W5 OR2T8 |
nsv1011097 | Chr.1:247402897 - 247503209 on Build GRCh38 | Gain | OR2B11 NLRP3 OR2W5 |
nsv509790 | Chr.1:247311000 - 247445876 on Build GRCh38 | Insertion | LOC107985115 ZNF496 NLRP3 |
More Information
Additional Information:
For this assay, SNP(s) [rs73136263] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |