Product Details

SNP ID

rs200032614

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:39499342 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGGGCTCTCAGAGGAGGCCGCC[G/T]AGTCCCCGTGCGCCCTGGGCGCGGC

Phenotype

MIM: 602768 MIM: 607381

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

DLL3 PubMed Links

Gene Details

Gene

DLL3

Gene Name

delta like canonical Notch ligand 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016941.3	278	Nonsense Mutation	GAG,TAG	E74*	NP_058637.1
NM_203486.2	278	Nonsense Mutation	GAG,TAG	E74*	NP_982353.1

Gene

TIMM50

Gene Name

translocase of inner mitochondrial membrane 50

There are no transcripts associated with this gene.

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