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GGCTGCTTCTGAAAGCTGGGCTGCT[G/T]CTTTGCTTTCCTTTGCTTCCTCATC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603534 MIM: 611612 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AP1G2 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) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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AP1G2 - adaptor related protein complex 1 gamma 2 subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282474.1 | 1783 | Missense Mutation | GAA,GCA | E,A 223 | NP_001269403.1 | |
NM_001282475.1 | 1783 | Missense Mutation | GAA,GCA | E,A 532 | NP_001269404.1 | |
NM_003917.4 | 1783 | Missense Mutation | GAA,GCA | E,A 604 | NP_003908.1 | |
XM_005268167.3 | 1783 | Missense Mutation | GAA,GCA | E,A 661 | XP_005268224.1 | |
XM_005268168.4 | 1783 | Missense Mutation | GAA,GCA | E,A 661 | XP_005268225.1 | |
XM_005268169.3 | 1783 | Missense Mutation | GAA,GCA | E,A 661 | XP_005268226.1 | |
XM_005268170.3 | 1783 | Missense Mutation | GAA,GCA | E,A 661 | XP_005268227.1 | |
XM_005268172.3 | 1783 | Missense Mutation | GAA,GCA | E,A 604 | XP_005268229.1 | |
XM_005268173.3 | 1783 | Missense Mutation | GAA,GCA | E,A 604 | XP_005268230.1 | |
XM_005268174.3 | 1783 | Missense Mutation | GAA,GCA | E,A 532 | XP_005268231.1 | |
XM_005268175.3 | 1783 | Missense Mutation | GAA,GCA | E,A 532 | XP_005268232.1 | |
XM_005268177.3 | 1783 | Missense Mutation | GAA,GCA | E,A 475 | XP_005268234.1 | |
XM_005268178.3 | 1783 | Missense Mutation | GAA,GCA | E,A 475 | XP_005268235.1 | |
XM_005268179.3 | 1783 | Missense Mutation | GAA,GCA | E,A 475 | XP_005268236.1 | |
XM_005268180.4 | 1783 | Missense Mutation | GAA,GCA | E,A 459 | XP_005268237.1 | |
XM_005268182.3 | 1783 | Missense Mutation | GAA,GCA | E,A 394 | XP_005268239.1 | |
XM_006720301.3 | 1783 | Missense Mutation | GAA,GCA | E,A 661 | XP_006720364.1 | |
XM_011537283.2 | 1783 | Missense Mutation | GAA,GCA | E,A 626 | XP_011535585.1 | |
XM_011537286.2 | 1783 | Missense Mutation | GAA,GCA | E,A 223 | XP_011535588.1 | |
XM_017021740.1 | 1783 | Missense Mutation | GAA,GCA | E,A 661 | XP_016877229.1 | |
XM_017021741.1 | 1783 | Missense Mutation | GAA,GCA | E,A 614 | XP_016877230.1 | |
XM_017021742.1 | 1783 | Missense Mutation | GAA,GCA | E,A 532 | XP_016877231.1 | |
XM_017021743.1 | 1783 | Intron | XP_016877232.1 | |||
XM_017021744.1 | 1783 | Intron | XP_016877233.1 | |||
XM_017021745.1 | 1783 | Intron | XP_016877234.1 | |||
XM_017021746.1 | 1783 | Missense Mutation | GAA,GCA | E,A 223 | XP_016877235.1 | |
XM_017021747.1 | 1783 | Missense Mutation | GAA,GCA | E,A 223 | XP_016877236.1 | |
XM_017021748.1 | 1783 | Missense Mutation | GAA,GCA | E,A 223 | XP_016877237.1 |
JPH4 - junctophilin 4 | ||||||
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There are no transcripts associated with this gene. |
LOC102724814 - uncharacterized LOC102724814 | ||||||
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There are no transcripts associated with this gene. |
THTPA - thiamine triphosphatase | ||||||
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There are no transcripts associated with this gene. |
ZFHX2 - zinc finger homeobox 2 | ||||||
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There are no transcripts associated with this gene. |