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SNP ID

rs113062528

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:61300855 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCATCTTGGGGCGGCTAATATCC[A/G]GGAAACTCTCAATCAAGTCACCGTC

Phenotype

MIM: 600045 MIM: 611115

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DDB1 PubMed Links

Gene Details

Gene

DDB1

Gene Name

damage specific DNA binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001923.4	3537	Missense Mutation	CCG,CTG	P1098L	NP_001914.3

Gene

VWCE

Gene Name

von Willebrand factor C and EGF domains

There are no transcripts associated with this gene.

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