Product Details

SNP ID
rs77698356
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:31105626 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTTGGCTTGAGATCCACAGCTGT[A/C]AAACCATATATTCTTGAGGAAGGGC
Phenotype
MIM: 607243
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
AP4S1 PubMed Links

Gene Details

Gene
AP4S1
Gene Name
adaptor related protein complex 4 sigma 1 subunit
There are no transcripts associated with this gene.

Gene
HECTD1
Gene Name
HECT domain E3 ubiquitin protein ligase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015382.3 7149 Silent Mutation NP_056197.3
XM_005267502.2 7149 Missense Mutation XP_005267559.2
XM_011536619.2 7149 Missense Mutation XP_011534921.1
XM_011536621.2 7149 Missense Mutation XP_011534923.1
XM_011536622.1 7149 Missense Mutation XP_011534924.1
XM_017021148.1 7149 Missense Mutation XP_016876637.1
XM_017021149.1 7149 Missense Mutation XP_016876638.1
XM_017021150.1 7149 Missense Mutation XP_016876639.1
XM_017021151.1 7149 Missense Mutation XP_016876640.1
XM_017021152.1 7149 Missense Mutation XP_016876641.1
XM_017021153.1 7149 Missense Mutation XP_016876642.1

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