Product Details

SNP ID

rs145000131

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:20862252 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTTCCCGCTCATCCTTGTAGCGC[A/C]TGAACAGTTCTTCCAATCTTTGCAA

Phenotype

MIM: 616167

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DCUN1D3 PubMed Links

Gene Details

Gene

DCUN1D3

Gene Name

defective in cullin neddylation 1 domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173475.3	547	Missense Mutation	AGG,ATG	R96M	NP_775746.1

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