Product Details

SNP ID: rs78920799
Assay Type: Functionally tested
NCBI dbSNP Submissions: 5
Location: Chr.1:45016450 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGATCCATGATTTATTCATAGAAAA[C/G]CACTGTGAATTCACACACTTGCTAA
Phenotype: MIM: 613521
Polymorphism: C/G, Transversion 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	5790	Intron			NP_000365.3
XM_005271169.1	5790	Intron			XP_005271226.1
XM_005271170.1	5790	Intron			XP_005271227.1

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	5790	UTR 3			NP_065934.1
XM_011541861.2	5790	Intron			XP_011540163.1
XM_017001913.1	5790	Intron			XP_016857402.1

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