Product Details

SNP ID
rs201769294
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:55829939 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCCTGGGTGTTTTCAATTGCCAT[C/G]TGAAGTTTATCCCATAATTCTTCAA
Phenotype
MIM: 602278
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
NEDD4 PubMed Links

Gene Details

Gene
NEDD4
Gene Name
neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001284338.1 2617 Missense Mutation CAC,CAG H1306Q NP_001271267.1
NM_001284339.1 2617 Missense Mutation CAC,CAG H1290Q NP_001271268.1
NM_001284340.1 2617 Missense Mutation CAC,CAG H1289Q NP_001271269.1
NM_006154.3 2617 Missense Mutation CAC,CAG H887Q NP_006145.2
NM_198400.3 2617 Missense Mutation CAC,CAG H1234Q NP_940682.2
XM_011521624.2 2617 Missense Mutation CAC,CAG H862Q XP_011519926.1
XM_011521625.2 2617 Missense Mutation CAC,CAG H836Q XP_011519927.1
XM_011521626.1 2617 Missense Mutation CAC,CAG H836Q XP_011519928.1
XM_011521627.1 2617 Missense Mutation CAC,CAG H814Q XP_011519929.1

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