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CTATAACCAATCAAGGACTCTTTAC[C/T]GCTATCATCCACAAGTAGATCCACT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 107470 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IFNGR1 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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IFNGR1 - interferon gamma receptor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000416.2 | 1588 | Missense Mutation | AGT,GGT | S,G 472 | NP_000407.1 | |
XM_006715470.2 | 1588 | Missense Mutation | AGT,GGT | S,G 462 | XP_006715533.1 | |
XM_006715471.2 | 1588 | Missense Mutation | AGT,GGT | S,G 431 | XP_006715534.1 | |
XM_011535793.2 | 1588 | Missense Mutation | AGT,GGT | S,G 462 | XP_011534095.1 | |
XM_011535794.1 | 1588 | Missense Mutation | AGT,GGT | S,G 462 | XP_011534096.1 | |
XM_017010827.1 | 1588 | Missense Mutation | AGT,GGT | S,G 462 | XP_016866316.1 |