Product Details

SNP ID

rs144729572

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47216874 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTGGCAGGGGCTCCAGCAGTCCT[G/T]TTTGCACACTCTGGATTCTTACCGG

Phenotype

MIM: 600811

Polymorphism

G/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	476	Missense Mutation	TGT,TTT	C94F	NP_000098.1
NM_001300734.1	476	Missense Mutation	TGT,TTT	C94F	NP_001287663.1

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