Product Details

SNP ID
rs147667349
Assay Type
Functionally tested
NCBI dbSNP Submissions
10
Location
Chr.1:15660422 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGTTGCACAACAAAAAGCTTCAC[A/G]TGACCAAGAATATCTTTGTAACATA
Phenotype
MIM: 601966
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DDI2 PubMed Links

Gene Details

Gene
DDI2
Gene Name
DNA damage inducible 1 homolog 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032341.4 710 UTR 3 NP_115717.3
Gene
RSC1A1
Gene Name
regulatory solute carrier protein, family 1, member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006511.2 710 Missense Mutation CAT,CGT H185R NP_006502.1

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