Product Details

SNP ID

rs764268015

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:45012960 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACACATTCCTGCGAGCAGCCTGGG[A/G]AGAGGAAACAGACTACACTCCCGTT

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	162	Missense Mutation	GAA,GGA	E25G	NP_000365.3
XM_005271169.1	162	UTR 5			XP_005271226.1
XM_005271170.1	162	UTR 5			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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