Product Details

SNP ID

rs201878530

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:113058293 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGTGTGGGAGTGGCTGAATGAGC[C/A]CAGCCGCTGGCGGCCCTACACGGCC

Phenotype

MIM: 602582

Polymorphism

C/A, Transversion 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	1079	Missense Mutation	CAC,CCC	H34P	NP_004407.2
XM_011538009.2	1079	Missense Mutation	CAC,CCC	H34P	XP_011536311.1

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