Product Details

SNP ID

rs139004387

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:138161987 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTCAGGTTCATGTTCATCACTCA[C/G]CCTCTTCAATGGCACCTTGGTTAAG

Phenotype

MIM: 607024

Polymorphism

C/G, 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	1691	Missense Mutation	CTG,GTG	L513V	NP_057300.2

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