Product Details

SNP ID

rs201120262

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:88463539 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTTTTTCCTTACATAGGTAAAGA[A/T]GATCCATCCCTTATTGAAGGACTAG

Phenotype

MIM: 608242

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

HERC5 PubMed Links

Gene Details

Gene

HERC5

Gene Name

HECT and RLD domain containing E3 ubiquitin protein ligase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016323.3	1362	Missense Mutation	GAA,GAT	E232D	NP_057407.2
XM_011532022.2	1362	Missense Mutation	GAA,GAT	E383D	XP_011530324.2

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