Product Details
- SNP ID
-
rs145344531
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:105026322 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CACTCTTTCAGTGGTGGGCATCTGC[A/G]CTCTACCATCTGGCTGCTCAAATGA
- Phenotype
-
MIM: 147678
MIM: 602665
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CASP1
PubMed Links
Gene Details
- Gene
- CASP1
- Gene Name
- caspase 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001223.4 |
1132 |
Missense Mutation |
GCG,GTG |
A363V |
NP_001214.1 |
NM_001257118.2 |
1132 |
Missense Mutation |
GCG,GTG |
A384V |
NP_001244047.1 |
NM_001257119.2 |
1132 |
Missense Mutation |
GCG,GTG |
A363V |
NP_001244048.1 |
NM_033292.3 |
1132 |
Missense Mutation |
GCG,GTG |
A384V |
NP_150634.1 |
NM_033293.3 |
1132 |
Missense Mutation |
GCG,GTG |
A291V |
NP_150635.1 |
NM_033294.3 |
1132 |
Missense Mutation |
GCG,GTG |
A243V |
NP_150636.1 |
NM_033295.3 |
1132 |
Missense Mutation |
GCG,GTG |
A68V |
NP_150637.1 |
XM_017018393.1 |
1132 |
Missense Mutation |
GCG,GTG |
A381V |
XP_016873882.1 |
XM_017018394.1 |
1132 |
Missense Mutation |
GCG,GTG |
A381V |
XP_016873883.1 |
XM_017018395.1 |
1132 |
Missense Mutation |
GCG,GTG |
A360V |
XP_016873884.1 |
XM_017018396.1 |
1132 |
Missense Mutation |
GCG,GTG |
A354V |
XP_016873885.1 |
- Gene
- CASP5
- Gene Name
- caspase 5
There are no transcripts associated with this gene.
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