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TTTTTCTTCCACAGACATCAGGATC[C/T]TCTGAGTTTCTTCATCAAAGCCAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609663 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NLRP9 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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NLRP9 - NLR family pyrin domain containing 9 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_176820.3 | 939 | Missense Mutation | AAG,AGG | K,R 960 | NP_789790.2 | |
XM_011526894.2 | 939 | Missense Mutation | AAG,AGG | K,R 248 | XP_011525196.1 | |
XM_011526895.1 | 939 | Missense Mutation | AAG,AGG | K,R 248 | XP_011525197.1 |