Product Details

SNP ID
rs145008223
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:156732012 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAGGAATTTTTCACAGACAACCTA[C/T]GGGACACACTCCCTTGCTCATGGCA
Phenotype
MIM: 611930 MIM: 611836
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ISG20L2 PubMed Links

Gene Details

Gene
ISG20L2
Gene Name
interferon stimulated exonuclease gene 20 like 2
There are no transcripts associated with this gene.

Gene
MRPL24
Gene Name
mitochondrial ribosomal protein L24
There are no transcripts associated with this gene.

Gene
RRNAD1
Gene Name
ribosomal RNA adenine dimethylase domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142560.1 687 Missense Mutation CGG,TGG R45W NP_001136032.1
NM_015997.3 687 Missense Mutation CGG,TGG R45W NP_057081.3
XM_005245234.4 687 Missense Mutation CGG,TGG R45W XP_005245291.1
XM_005245235.4 687 Intron XP_005245292.1
XM_005245236.4 687 Missense Mutation CGG,TGG R45W XP_005245293.1
XM_005245237.4 687 Missense Mutation CGG,TGG R45W XP_005245294.1
XM_011509600.1 687 UTR 5 XP_011507902.1
XM_017001404.1 687 UTR 5 XP_016856893.1
XM_017001405.1 687 UTR 5 XP_016856894.1
XM_017001406.1 687 UTR 5 XP_016856895.1

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