Product Details

SNP ID
rs143450316
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:43718691 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCCAGGCCGCCTCTCACCTCCAG[A/G]AGCTGCTGGCCTCCACGGAAAGCAT
Phenotype
MIM: 613176
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
IRGC PubMed Links

Gene Details

Gene
IRGC
Gene Name
immunity related GTPase cinema
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019612.3 314 Missense Mutation AAG,GAG K45E NP_062558.1
XM_005259058.3 314 Missense Mutation AAG,GAG K82E XP_005259115.1
XM_006723283.3 314 Missense Mutation AAG,GAG K45E XP_006723346.1
XM_011527118.2 314 Missense Mutation AAG,GAG K45E XP_011525420.1
Gene
SMG9
Gene Name
SMG9, nonsense mediated mRNA decay factor
There are no transcripts associated with this gene.

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