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AACGCTCTGCCCCCTGGCATTTAGA[A/G]ATAGTTGCCCAGTGGGCTTTGCCAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
10 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 | 1427 | Silent Mutation | ATC,ATT | I,I 575 | NP_001240781.1 | |
NM_001253853.2 | 1427 | Silent Mutation | ATC,ATT | I,I 476 | NP_001240782.1 | |
NM_001308312.1 | 1427 | Silent Mutation | ATC,ATT | I,I 407 | NP_001295241.1 | |
NM_006594.4 | 1427 | Silent Mutation | ATC,ATT | I,I 575 | NP_006585.2 | |
XM_011540523.2 | 1427 | Silent Mutation | ATC,ATT | I,I 500 | XP_011538825.1 | |
XM_011540524.2 | 1427 | Silent Mutation | ATC,ATT | I,I 500 | XP_011538826.1 | |
XM_011540525.2 | 1427 | Silent Mutation | ATC,ATT | I,I 482 | XP_011538827.1 | |
XM_011540528.2 | 1427 | Silent Mutation | ATC,ATT | I,I 250 | XP_011538830.1 | |
XM_017000088.1 | 1427 | Silent Mutation | ATC,ATT | I,I 536 | XP_016855577.1 | |
XM_017000089.1 | 1427 | Silent Mutation | ATC,ATT | I,I 471 | XP_016855578.1 | |
XM_017000090.1 | 1427 | Silent Mutation | ATC,ATT | I,I 407 | XP_016855579.1 | |
XM_017000091.1 | 1427 | Silent Mutation | ATC,ATT | I,I 378 | XP_016855580.1 | |
XM_017000092.1 | 1427 | Silent Mutation | ATC,ATT | I,I 250 | XP_016855581.1 | |
XM_017000093.1 | 1427 | 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. |