Product Details

SNP ID
rs2234478
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:53534452 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGTACTACTGGTTTATTTGGTAT[C/T]ACACAAACTAGCGTTGCCTAGGGTA
Phenotype
MIM: 300697
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HUWE1 PubMed Links

Gene Details

Gene
HUWE1
Gene Name
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_031407.6 Intron NP_113584.3
XM_005261965.3 Intron XP_005262022.1
XM_011530747.1 Intron XP_011529049.1
XM_011530751.2 Intron XP_011529053.1
XM_017029191.1 Intron XP_016884680.1
XM_017029192.1 Intron XP_016884681.1
XM_017029193.1 Intron XP_016884682.1
XM_017029194.1 Intron XP_016884683.1
XM_017029195.1 Intron XP_016884684.1
XM_017029196.1 Intron XP_016884685.1
XM_017029197.1 Intron XP_016884686.1
XM_017029198.1 Intron XP_016884687.1
XM_017029199.1 Intron XP_016884688.1
XM_017029200.1 Intron XP_016884689.1
XM_017029201.1 Intron XP_016884690.1
XM_017029202.1 Intron XP_016884691.1
XM_017029203.1 Intron XP_016884692.1
XM_017029204.1 Intron XP_016884693.1
XM_017029205.1 Intron XP_016884694.1
XM_017029206.1 Intron XP_016884695.1

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