Product Details
- SNP ID
-
rs200831588
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:49807198 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGCAGAGTGTGGGTGGCCAGGCTTC[A/G]CAGCCCATGGGTGGGACTCTGGGGA
- Phenotype
-
MIM: 601026
MIM: 610622
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
AP2A1
PubMed Links
Gene Details
- Gene
- AP2A1
- Gene Name
- adaptor related protein complex 2 alpha 1 subunit
- Gene
- FUZ
- Gene Name
- fuzzy planar cell polarity protein
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001171937.1 |
1353 |
Nonsense Mutation |
CGA,TGA |
R368* |
NP_001165408.1 |
NM_025129.4 |
1353 |
Nonsense Mutation |
CGA,TGA |
R404* |
NP_079405.2 |
XM_006723399.3 |
1353 |
UTR 3 |
|
|
XP_006723462.1 |
XM_011527339.1 |
1353 |
Nonsense Mutation |
CGA,TGA |
R405* |
XP_011525641.1 |
XM_011527340.1 |
1353 |
Nonsense Mutation |
CGA,TGA |
R355* |
XP_011525642.1 |
XM_011527341.2 |
1353 |
Nonsense Mutation |
CGA,TGA |
R355* |
XP_011525643.1 |
XM_011527342.1 |
1353 |
Nonsense Mutation |
CGA,TGA |
R348* |
XP_011525644.1 |
XM_011527343.1 |
1353 |
UTR 3 |
|
|
XP_011525645.1 |
XM_011527345.1 |
1353 |
Nonsense Mutation |
CGA,TGA |
R305* |
XP_011525647.1 |
XM_011527346.1 |
1353 |
Nonsense Mutation |
CGA,TGA |
R305* |
XP_011525648.1 |
XM_011527347.1 |
1353 |
Nonsense Mutation |
CGA,TGA |
R305* |
XP_011525649.1 |
XM_017027319.1 |
1353 |
Nonsense Mutation |
CGA,TGA |
R354* |
XP_016882808.1 |
XM_017027320.1 |
1353 |
Intron |
|
|
XP_016882809.1 |
XM_017027321.1 |
1353 |
Nonsense Mutation |
CGA,TGA |
R304* |
XP_016882810.1 |
XM_017027322.1 |
1353 |
UTR 3 |
|
|
XP_016882811.1 |
XM_017027323.1 |
1353 |
Intron |
|
|
XP_016882812.1 |
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