Product Details

SNP ID

rs79038092

Assay Type

Functionally Tested

NCBI dbSNP Submissions

2

Location

Chr.1:45003700 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGTGTGGCAGGAAGAGGGTGCTGG[A/G]GCAAGTGGAAGACTCGGGCAGCGCG

Phenotype

MIM: 613521

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

HECTD3 PubMed Links

Additional Information

For this assay, SNP(s) [rs562126758] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

HECTD3

Gene Name

HECT domain E3 ubiquitin protein ligase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024602.5	1965	Missense Mutation	CCC,TCC	P824S	NP_078878.3
XM_011542140.2	1965	Missense Mutation	CCC,TCC	P540S	XP_011540442.1

Gene

UROD

Gene Name

uroporphyrinogen decarboxylase

There are no transcripts associated with this gene.

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