Product Details

SNP ID

rs143941508

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:113058446 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTCCATGCACCAGTTTCGCCAGG[A/G]CACAGGTGAGCAGACACCCACCCCA

Phenotype

MIM: 602582

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DTX1 PubMed Links

Gene Details

Gene

DTX1

Gene Name

deltex E3 ubiquitin ligase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004416.2	1232	Missense Mutation	GAC,GGC	D85G	NP_004407.2
XM_011538009.2	1232	Missense Mutation	GAC,GGC	D85G	XP_011536311.1

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