Product Details

SNP ID

rs144088253

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:15660008 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTATCAAGCCCAGTGACTCAGATC[A/G]CATTGAACCTAAAGCTGTGAAGGCT

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	296	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	296	Missense Mutation	CAC,CGC	H47R	NP_006502.1

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