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GGTTCCTCAGTCCCCAACACCAGGT[A/G]GCAAGCTCTGGGCAGCTGGGCCTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 601026 MIM: 610622 | ||||||||||||||||||||
Literature Links: |
AP2A1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
AP2A1 - adaptor related protein complex 2 alpha 1 subunit | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014203.2 | 1239 | Intron | NP_055018.2 | |||
NM_130787.2 | 1239 | Intron | NP_570603.2 | |||
XM_011526556.2 | 1239 | Intron | XP_011524858.1 | |||
XM_011526557.2 | 1239 | Intron | XP_011524859.1 |
FUZ - fuzzy planar cell polarity protein | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001171937.1 | 1239 | Missense Mutation | CAC,TAC | H,Y 330 | NP_001165408.1 | |
NM_025129.4 | 1239 | Missense Mutation | CAC,TAC | H,Y 366 | NP_079405.2 | |
XM_006723399.3 | 1239 | UTR 3 | XP_006723462.1 | |||
XM_011527339.1 | 1239 | Missense Mutation | CAC,TAC | H,Y 367 | XP_011525641.1 | |
XM_011527340.1 | 1239 | Missense Mutation | CAC,TAC | H,Y 317 | XP_011525642.1 | |
XM_011527341.2 | 1239 | Missense Mutation | CAC,TAC | H,Y 317 | XP_011525643.1 | |
XM_011527342.1 | 1239 | Missense Mutation | CAC,TAC | H,Y 310 | XP_011525644.1 | |
XM_011527343.1 | 1239 | UTR 3 | XP_011525645.1 | |||
XM_011527345.1 | 1239 | Missense Mutation | CAC,TAC | H,Y 267 | XP_011525647.1 | |
XM_011527346.1 | 1239 | Missense Mutation | CAC,TAC | H,Y 267 | XP_011525648.1 | |
XM_011527347.1 | 1239 | Missense Mutation | CAC,TAC | H,Y 267 | XP_011525649.1 | |
XM_017027319.1 | 1239 | Missense Mutation | CAC,TAC | H,Y 316 | XP_016882808.1 | |
XM_017027320.1 | 1239 | Intron | XP_016882809.1 | |||
XM_017027321.1 | 1239 | Missense Mutation | CAC,TAC | H,Y 266 | XP_016882810.1 | |
XM_017027322.1 | 1239 | UTR 3 | XP_016882811.1 | |||
XM_017027323.1 | 1239 | Intron | XP_016882812.1 |