Product Details
- SNP ID
-
rs11549801
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.14:31101047 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCACACATGTATTGACTGATGGATA[A/G]CTTGCATCAGTAGCATCAACCTACA
- Phenotype
-
MIM: 607243
- Polymorphism
- A/G, Transition 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 |
7596 |
Silent Mutation |
AGC,AGT |
S2572S |
NP_056197.3 |
| XM_005267502.2 |
7596 |
Silent Mutation |
AGC,AGT |
S2572S |
XP_005267559.2 |
| XM_011536619.2 |
7596 |
Silent Mutation |
AGC,AGT |
S2570S |
XP_011534921.1 |
| XM_011536621.2 |
7596 |
Silent Mutation |
AGC,AGT |
S2293S |
XP_011534923.1 |
| XM_011536622.1 |
7596 |
Silent Mutation |
AGC,AGT |
S2022S |
XP_011534924.1 |
| XM_017021148.1 |
7596 |
Silent Mutation |
AGC,AGT |
S2525S |
XP_016876637.1 |
| XM_017021149.1 |
7596 |
Silent Mutation |
AGC,AGT |
S2523S |
XP_016876638.1 |
| XM_017021150.1 |
7596 |
Silent Mutation |
AGC,AGT |
S2511S |
XP_016876639.1 |
| XM_017021151.1 |
7596 |
Silent Mutation |
AGC,AGT |
S2293S |
XP_016876640.1 |
| XM_017021152.1 |
7596 |
Silent Mutation |
AGC,AGT |
S2291S |
XP_016876641.1 |
| XM_017021153.1 |
7596 |
Silent Mutation |
AGC,AGT |
S2291S |
XP_016876642.1 |
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