Product Details

SNP ID
rs199641966
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:137198445 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCTTCAGTAGTCACCACTTCTGT[C/T]ATACTAGAAAGTTCTTCTGTATGTT
Phenotype
MIM: 107470
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IFNGR1 PubMed Links

Gene Details

Gene
IFNGR1
Gene Name
interferon gamma receptor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000416.2 1230 Missense Mutation ATA,ATG I352M NP_000407.1
XM_006715470.2 1230 Missense Mutation ATA,ATG I342M XP_006715533.1
XM_006715471.2 1230 Missense Mutation ATA,ATG I311M XP_006715534.1
XM_011535793.2 1230 Missense Mutation ATA,ATG I342M XP_011534095.1
XM_011535794.1 1230 Missense Mutation ATA,ATG I342M XP_011534096.1
XM_017010827.1 1230 Missense Mutation ATA,ATG I342M XP_016866316.1

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