Product Details
- SNP ID
-
rs202057780
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
1
- Location
-
Chr.1:247418961 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAGGCAGACCATGTGGATCTAGCCA[C/T]GCTAATGATCGACTTCAATGGGGAG
- Phenotype
-
MIM: 606416
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
NLRP3
PubMed Links
Gene Details
- Gene
- NLRP3
- Gene Name
- NLR family pyrin domain containing 3
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001079821.2 |
913 |
Missense Mutation |
ACG,ATG |
T56M |
NP_001073289.1 |
NM_001127461.2 |
913 |
Missense Mutation |
ACG,ATG |
T56M |
NP_001120933.1 |
NM_001127462.2 |
913 |
Missense Mutation |
ACG,ATG |
T56M |
NP_001120934.1 |
NM_001243133.1 |
913 |
Missense Mutation |
ACG,ATG |
T54M |
NP_001230062.1 |
NM_004895.4 |
913 |
Missense Mutation |
ACG,ATG |
T56M |
NP_004886.3 |
NM_183395.2 |
913 |
Missense Mutation |
ACG,ATG |
T56M |
NP_899632.1 |
XM_011544048.2 |
913 |
Missense Mutation |
ACG,ATG |
T56M |
XP_011542350.1 |
XM_011544053.2 |
913 |
Missense Mutation |
ACG,ATG |
T56M |
XP_011542355.1 |
XM_011544055.2 |
913 |
Missense Mutation |
ACG,ATG |
T56M |
XP_011542357.1 |
XM_017000181.1 |
913 |
Missense Mutation |
ACG,ATG |
T56M |
XP_016855670.1 |
XM_017000182.1 |
913 |
Missense Mutation |
ACG,ATG |
T56M |
XP_016855671.1 |
XM_017000183.1 |
913 |
Missense Mutation |
ACG,ATG |
T56M |
XP_016855672.1 |
XM_017000184.1 |
913 |
Missense Mutation |
ACG,ATG |
T56M |
XP_016855673.1 |
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