Product Details

SNP ID

rs1131147

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:45013308 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCTACAGCCACTGCGTCGCTTCC[C/T]TCTGGATGCTGCCATCATTTTCTCC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000374.4	318	Missense Mutation	CCT,CTT	P77L	NP_000365.3
XM_005271169.1	318	UTR 5			XP_005271226.1
XM_005271170.1	318	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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