Product Details

SNP ID

rs138770575

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:15659947 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGAGTCCTGATGTTGGTAATCCT[A/G]TGAGTCTTGCTCGCTCTGTCTCTGC

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	235	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	235	Missense Mutation	ATG,GTG	M27V	NP_006502.1

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