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AGAAATAAAACTATTCAGCGTCTCC[A/G]TTCTTGCTTCATTTTGTTTCACAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
7 submissions
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Phenotype: |
MIM: 607245 MIM: 609683 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AP4B1 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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AP4B1 - adaptor related protein complex 4 beta 1 subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001253852.2 | 1852 | Missense Mutation | ACG,ATG | T,M 717 | NP_001240781.1 | |
NM_001253853.2 | 1852 | Missense Mutation | ACG,ATG | T,M 618 | NP_001240782.1 | |
NM_001308312.1 | 1852 | Missense Mutation | ACG,ATG | T,M 549 | NP_001295241.1 | |
NM_006594.4 | 1852 | Missense Mutation | ACG,ATG | T,M 717 | NP_006585.2 | |
XM_011540523.2 | 1852 | Missense Mutation | ACG,ATG | T,M 642 | XP_011538825.1 | |
XM_011540524.2 | 1852 | Missense Mutation | ACG,ATG | T,M 642 | XP_011538826.1 | |
XM_011540525.2 | 1852 | Missense Mutation | ACG,ATG | T,M 624 | XP_011538827.1 | |
XM_011540528.2 | 1852 | Missense Mutation | ACG,ATG | T,M 392 | XP_011538830.1 | |
XM_017000088.1 | 1852 | Missense Mutation | ACG,ATG | T,M 678 | XP_016855577.1 | |
XM_017000089.1 | 1852 | Missense Mutation | ACG,ATG | T,M 613 | XP_016855578.1 | |
XM_017000090.1 | 1852 | Missense Mutation | ACG,ATG | T,M 549 | XP_016855579.1 | |
XM_017000091.1 | 1852 | Missense Mutation | ACG,ATG | T,M 520 | XP_016855580.1 | |
XM_017000092.1 | 1852 | Missense Mutation | ACG,ATG | T,M 392 | XP_016855581.1 | |
XM_017000093.1 | 1852 | Intron | XP_016855582.1 |
AP4B1-AS1 - AP4B1 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |
BCL2L15 - BCL2 like 15 | ||||||
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There are no transcripts associated with this gene. |
DCLRE1B - DNA cross-link repair 1B | ||||||
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There are no transcripts associated with this gene. |