Product Details

SNP ID

rs141868923

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:138162151 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGAAACTTGCAGAAAACTCAGAA[G/T]CTTGATCAGAAGGTTCTACCGATGG

Phenotype

MIM: 607024

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

DBR1 PubMed Links

Gene Details

Gene

DBR1

Gene Name

debranching RNA lariats 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016216.3	1527	Missense Mutation	GAT,GCT	D458A	NP_057300.2

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