Product Details

SNP ID
rs142983350
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:43718713 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGAGCTGCTGGCCTCCACGGAAA[A/G]CATCCGCCTGGAGGTGGGCGTCACG
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_019612.3 336 Missense Mutation AAC,AGC N52S NP_062558.1
XM_005259058.3 336 Missense Mutation AAC,AGC N89S XP_005259115.1
XM_006723283.3 336 Missense Mutation AAC,AGC N52S XP_006723346.1
XM_011527118.2 336 Missense Mutation AAC,AGC N52S 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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