Product Details

SNP ID
rs147288369
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:156732348 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACGGCGTGTGCCCTGGCCTTTACC[C/T]GGATGCCTGGCTTTCAGACCCCCTC
Phenotype
MIM: 600339 MIM: 611930 MIM: 611836
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HDGF PubMed Links

Gene Details

Gene
HDGF
Gene Name
hepatoma-derived growth factor
There are no transcripts associated with this gene.

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_001142560.1 858 Missense Mutation CGG,TGG R102W NP_001136032.1
NM_015997.3 858 Missense Mutation CGG,TGG R102W NP_057081.3
XM_005245234.4 858 Missense Mutation CGG,TGG R102W XP_005245291.1
XM_005245235.4 858 Intron XP_005245292.1
XM_005245236.4 858 Missense Mutation CGG,TGG R102W XP_005245293.1
XM_005245237.4 858 Missense Mutation CGG,TGG R102W XP_005245294.1
XM_011509600.1 858 Missense Mutation CGG,TGG R36W XP_011507902.1
XM_017001404.1 858 Missense Mutation CGG,TGG R36W XP_016856893.1
XM_017001405.1 858 Intron XP_016856894.1
XM_017001406.1 858 Intron XP_016856895.1

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