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CCAATAAAAACAGAGCCCATTGTGG[G/T]ATGTCTCCAAGAAACATTATCTATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 147678 MIM: 602665 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CASP1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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CASP1 - caspase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001223.4 | 1008 | Missense Mutation | ACC,CCC | T,P 322 | NP_001214.1 | |
NM_001257118.2 | 1008 | Missense Mutation | ACC,CCC | T,P 343 | NP_001244047.1 | |
NM_001257119.2 | 1008 | Missense Mutation | ACC,CCC | T,P 322 | NP_001244048.1 | |
NM_033292.3 | 1008 | Missense Mutation | ACC,CCC | T,P 343 | NP_150634.1 | |
NM_033293.3 | 1008 | Missense Mutation | ACC,CCC | T,P 250 | NP_150635.1 | |
NM_033294.3 | 1008 | Missense Mutation | ACC,CCC | T,P 202 | NP_150636.1 | |
NM_033295.3 | 1008 | Missense Mutation | ACC,CCC | T,P 27 | NP_150637.1 | |
XM_017018393.1 | 1008 | Missense Mutation | ACC,CCC | T,P 340 | XP_016873882.1 | |
XM_017018394.1 | 1008 | Missense Mutation | ACC,CCC | T,P 340 | XP_016873883.1 | |
XM_017018395.1 | 1008 | Missense Mutation | ACC,CCC | T,P 319 | XP_016873884.1 | |
XM_017018396.1 | 1008 | Missense Mutation | ACC,CCC | T,P 313 | XP_016873885.1 |
CASP5 - caspase 5 | ||||||
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There are no transcripts associated with this gene. |