Product Details

SNP ID

rs199630230

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47216426 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATGCCGCAGCATCGTCAGGACCC[A/T]CCACCAGCATAAGCTGGGCAGAGCT

Phenotype

MIM: 600811

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

DDB2 PubMed Links

Gene Details

Gene

DDB2

Gene Name

damage specific DNA binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000107.2	413	Missense Mutation	CAC,CTC	H73L	NP_000098.1
NM_001300734.1	413	Missense Mutation	CAC,CTC	H73L	NP_001287663.1

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