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CCTGACACCACTTGACAGCCTCATC[A/G]ACTTCAAGCGCTTCCATCCCTTCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611218 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GSDMA 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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GSDMA - gasdermin A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_178171.4 | 203 | Missense Mutation | AAC,GAC | N,D 29 | NP_835465.2 | |
XM_006721832.2 | 203 | Missense Mutation | AAC,GAC | N,D 29 | XP_006721895.1 | |
XM_011524651.2 | 203 | Intron | XP_011522953.1 | |||
XM_017024502.1 | 203 | Missense Mutation | AAC,GAC | N,D 29 | XP_016879991.1 | |
XM_017024503.1 | 203 | Missense Mutation | AAC,GAC | N,D 29 | XP_016879992.1 | |
XM_017024504.1 | 203 | Missense Mutation | AAC,GAC | N,D 29 | XP_016879993.1 |