Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGTGGCCAGGCTTCGCAGCCCATGG[A/G]TGGGACTCTGGGGAGACAGCAGCAG
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 | ||||||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | ||||||
EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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AP2A1 - adaptor related protein complex 2 alpha 1 subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014203.2 | 1342 | Intron | NP_055018.2 | |||
NM_130787.2 | 1342 | Intron | NP_570603.2 | |||
XM_011526556.2 | 1342 | Intron | XP_011524858.1 | |||
XM_011526557.2 | 1342 | Intron | XP_011524859.1 |
FUZ - fuzzy planar cell polarity protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001171937.1 | 1342 | Missense Mutation | ACC,ATC | T,I 364 | NP_001165408.1 | |
NM_025129.4 | 1342 | Missense Mutation | ACC,ATC | T,I 400 | NP_079405.2 | |
XM_006723399.3 | 1342 | UTR 3 | XP_006723462.1 | |||
XM_011527339.1 | 1342 | Missense Mutation | ACC,ATC | T,I 401 | XP_011525641.1 | |
XM_011527340.1 | 1342 | Missense Mutation | ACC,ATC | T,I 351 | XP_011525642.1 | |
XM_011527341.2 | 1342 | Missense Mutation | ACC,ATC | T,I 351 | XP_011525643.1 | |
XM_011527342.1 | 1342 | Missense Mutation | ACC,ATC | T,I 344 | XP_011525644.1 | |
XM_011527343.1 | 1342 | UTR 3 | XP_011525645.1 | |||
XM_011527345.1 | 1342 | Missense Mutation | ACC,ATC | T,I 301 | XP_011525647.1 | |
XM_011527346.1 | 1342 | Missense Mutation | ACC,ATC | T,I 301 | XP_011525648.1 | |
XM_011527347.1 | 1342 | Missense Mutation | ACC,ATC | T,I 301 | XP_011525649.1 | |
XM_017027319.1 | 1342 | Missense Mutation | ACC,ATC | T,I 350 | XP_016882808.1 | |
XM_017027320.1 | 1342 | Intron | XP_016882809.1 | |||
XM_017027321.1 | 1342 | Missense Mutation | ACC,ATC | T,I 300 | XP_016882810.1 | |
XM_017027322.1 | 1342 | UTR 3 | XP_016882811.1 | |||
XM_017027323.1 | 1342 | Intron | XP_016882812.1 |
Set Membership: |
HapMap |