Product Details

SNP ID

rs199608753

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:45020071 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGGAGGTGGGAGACTCACCCACT[G/T]CTGTAGCACAGGTCACCAACCATCG

Phenotype

MIM: 613521

Polymorphism

G/T, 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

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	2918	Missense Mutation	GAA,GCA	E897A	NP_065934.1
XM_011541861.2	2918	Intron			XP_011540163.1
XM_017001913.1	2918	Intron			XP_016857402.1

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