Product Details

SNP ID

rs111369324

Assay Type

Functionally tested

NCBI dbSNP Submissions

19

Location

Chr.1:45013682 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGAGCAGGACCTAGAACGCCTAC[A/G]GGATCCAGAAGTGGTAGCCTCTGAG

Phenotype

MIM: 613521

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HECTD3 PubMed Links

Gene Details

Gene

HECTD3

Gene Name

HECT domain E3 ubiquitin protein ligase 3

There are no transcripts associated with this gene.

Gene

UROD

Gene Name

uroporphyrinogen decarboxylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000374.4	472	Missense Mutation	CAG,CGG	Q122R	NP_000365.3
XM_005271169.1	472	Missense Mutation	CAG,CGG	Q50R	XP_005271226.1
XM_005271170.1	472	Missense Mutation	CAG,CGG	Q50R	XP_005271227.1

Gene

ZSWIM5

Gene Name

zinc finger SWIM-type containing 5

There are no transcripts associated with this gene.

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