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GGACTCACCTGCTGCTCACACCAGC[C/T]GCCTCCGCTTCCGGGTGTGCCTGGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607212 MIM: 602777 | ||||||||||||||||||||
Literature Links: |
CARD9 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CARD9 - caspase recruitment domain family member 9 | ||||||
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There are no transcripts associated with this gene. |
SNAPC4 - small nuclear RNA activating complex polypeptide 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
XM_005266096.2 | 5413 | Missense Mutation | CAG,CGG | Q,R 1467 | XP_005266153.1 | |
XM_006717241.2 | 5413 | Missense Mutation | CAG,CGG | Q,R 1467 | XP_006717304.1 | |
XM_006717242.3 | 5413 | Missense Mutation | CAG,CGG | Q,R 1467 | XP_006717305.1 | |
XM_006717244.2 | 5413 | Missense Mutation | CAG,CGG | Q,R 871 | XP_006717307.1 | |
XM_017015058.1 | 5413 | Missense Mutation | CAG,CGG | Q,R 1439 | XP_016870547.1 |