Product Details

SNP ID
rs1042970
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:53533198 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTGGGACACACACGGTGAGTTGG[G/T]GGATTTCATTTATTGGTTTTTGACA
Phenotype
MIM: 300697
Polymorphism
G/T, Transversion 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 16631 UTR 3 NP_113584.3
XM_005261965.3 16631 UTR 3 XP_005262022.1
XM_011530747.1 16631 UTR 3 XP_011529049.1
XM_011530751.2 16631 UTR 3 XP_011529053.1
XM_017029191.1 16631 UTR 3 XP_016884680.1
XM_017029192.1 16631 UTR 3 XP_016884681.1
XM_017029193.1 16631 UTR 3 XP_016884682.1
XM_017029194.1 16631 UTR 3 XP_016884683.1
XM_017029195.1 16631 UTR 3 XP_016884684.1
XM_017029196.1 16631 UTR 3 XP_016884685.1
XM_017029197.1 16631 UTR 3 XP_016884686.1
XM_017029198.1 16631 UTR 3 XP_016884687.1
XM_017029199.1 16631 UTR 3 XP_016884688.1
XM_017029200.1 16631 UTR 3 XP_016884689.1
XM_017029201.1 16631 UTR 3 XP_016884690.1
XM_017029202.1 16631 UTR 3 XP_016884691.1
XM_017029203.1 16631 UTR 3 XP_016884692.1
XM_017029204.1 16631 UTR 3 XP_016884693.1
XM_017029205.1 16631 UTR 3 XP_016884694.1
XM_017029206.1 16631 UTR 3 XP_016884695.1

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