Product Details

SNP ID
rs187220478
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:88697328 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTCCTCCTCGTCATCCTCGTACT[C/T]CTCTTCCTCCTCCTCCTCCCCCTCC
Phenotype
MIM: 605200 MIM: 612203
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HERC3 PubMed Links

Gene Details

Gene
HERC3
Gene Name
HECT and RLD domain containing E3 ubiquitin protein ligase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271602.1 908 Intron NP_001258531.1
NM_001318505.1 908 Intron NP_001305434.1
NM_014606.2 908 Intron NP_055421.1
XM_005263327.3 908 Intron XP_005263384.1
XM_005263329.3 908 Intron XP_005263386.1
XM_005263330.3 908 Intron XP_005263387.1
XM_005263331.1 908 Intron XP_005263388.1
XM_005263332.3 908 Intron XP_005263389.1
XM_011532397.2 908 Intron XP_011530699.1
XM_017008806.1 908 Intron XP_016864295.1
XM_017008807.1 908 Intron XP_016864296.1
XM_017008808.1 908 Intron XP_016864297.1
Gene
NAP1L5
Gene Name
nucleosome assembly protein 1 like 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153757.3 908 Missense Mutation AAG,GAG K143E NP_715638.1

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