Product Details
- SNP ID
-
rs199540130
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:39906980 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTTACCTAAACAGGATGAAGCACC[A/C]TCCTTCTCTGCAGAGAGAGGAAGAG
- Phenotype
-
MIM: 611221
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
GSDMB
PubMed Links
Gene Details
- Gene
- GSDMB
- Gene Name
- gasdermin B
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001042471.1 |
2756 |
Missense Mutation |
GAG,GAT |
E223D |
NP_001035936.1 |
NM_001165958.1 |
2756 |
Missense Mutation |
GAG,GAT |
E236D |
NP_001159430.1 |
NM_001165959.1 |
2756 |
Intron |
|
|
NP_001159431.1 |
NM_018530.2 |
2756 |
Intron |
|
|
NP_061000.2 |
XM_011525004.1 |
2756 |
Missense Mutation |
GAG,GAT |
E240D |
XP_011523306.1 |
XM_011525006.1 |
2756 |
Missense Mutation |
GAG,GAT |
E240D |
XP_011523308.1 |
XM_011525007.2 |
2756 |
Missense Mutation |
GAG,GAT |
E240D |
XP_011523309.1 |
XM_011525009.1 |
2756 |
Missense Mutation |
GAG,GAT |
E240D |
XP_011523311.1 |
XM_011525011.1 |
2756 |
Missense Mutation |
GAG,GAT |
E240D |
XP_011523313.1 |
XM_011525012.1 |
2756 |
Missense Mutation |
GAG,GAT |
E240D |
XP_011523314.1 |
XM_011525013.1 |
2756 |
Missense Mutation |
GAG,GAT |
E240D |
XP_011523315.1 |
XM_011525015.1 |
2756 |
Missense Mutation |
GAG,GAT |
E240D |
XP_011523317.1 |
XM_017024848.1 |
2756 |
Missense Mutation |
GAG,GAT |
E240D |
XP_016880337.1 |
XM_017024849.1 |
2756 |
Missense Mutation |
GAG,GAT |
E240D |
XP_016880338.1 |
XM_017024850.1 |
2756 |
Missense Mutation |
GAG,GAT |
E236D |
XP_016880339.1 |
XM_017024851.1 |
2756 |
Intron |
|
|
XP_016880340.1 |
XM_017024852.1 |
2756 |
Missense Mutation |
GAG,GAT |
E223D |
XP_016880341.1 |
XM_017024853.1 |
2756 |
Intron |
|
|
XP_016880342.1 |
XM_017024854.1 |
2756 |
Missense Mutation |
AGG,ATG |
R232M |
XP_016880343.1 |
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