Product Details

SNP ID

rs201240018

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:45018776 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAGGTGCAGTCACTGTGCAGCGT[C/T]GTAAGATGTCTGAAAGCACTGTGGC

Phenotype

MIM: 613521

Polymorphism

C/T, 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

There are no transcripts associated with this gene.

Gene

ZSWIM5

Gene Name

zinc finger SWIM-type containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020883.1	3464	Missense Mutation	CAA,CGA	Q1079R	NP_065934.1
XM_011541861.2	3464	Intron			XP_011540163.1
XM_017001913.1	3464	Intron			XP_016857402.1

View Full Product Details