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SNP ID

rs201781168

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:45004105 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTCCCAGAAATACTGCACCCGCG[A/C]GTCAGATGGCTCGAAGTCCTCAAAC

Phenotype

MIM: 613521

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

HECTD3 PubMed Links

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	1797	Missense Mutation			NP_078878.3
XM_011542140.2	1797	Missense Mutation			XP_011540442.1

Gene

UROD

Gene Name

uroporphyrinogen decarboxylase

There are no transcripts associated with this gene.

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