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GGGAGAGTCCATTTACCAAGCAGCG[A/G]GCATTACGCCGTTCGGCCATGATCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602709 MIM: 607608 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
APBB1 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
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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APBB1 - amyloid beta precursor protein binding family B member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001164.4 | 1131 | Silent Mutation | GCC,GCT | A,A 509 | NP_001155.1 | |
NM_001257319.2 | 1131 | Silent Mutation | GCC,GCT | A,A 289 | NP_001244248.1 | |
NM_001257320.2 | 1131 | Silent Mutation | GCC,GCT | A,A 250 | NP_001244249.1 | |
NM_001257321.2 | 1131 | Silent Mutation | GCC,GCT | A,A 250 | NP_001244250.1 | |
NM_001257323.2 | 1131 | Silent Mutation | GCC,GCT | A,A 287 | NP_001244252.1 | |
NM_001257325.2 | 1131 | Silent Mutation | GCC,GCT | A,A 274 | NP_001244254.1 | |
NM_001257326.2 | 1131 | Silent Mutation | GCC,GCT | A,A 250 | NP_001244255.1 | |
NM_145689.2 | 1131 | Silent Mutation | GCC,GCT | A,A 507 | NP_663722.1 | |
XM_006718209.3 | 1131 | Silent Mutation | GCC,GCT | A,A 610 | XP_006718272.2 | |
XM_006718210.3 | 1131 | Silent Mutation | GCC,GCT | A,A 605 | XP_006718273.2 | |
XM_006718211.1 | 1131 | Silent Mutation | GCC,GCT | A,A 610 | XP_006718274.1 | |
XM_006718212.3 | 1131 | Silent Mutation | GCC,GCT | A,A 514 | XP_006718275.2 | |
XM_006718213.1 | 1131 | Silent Mutation | GCC,GCT | A,A 605 | XP_006718276.1 | |
XM_006718214.3 | 1131 | Silent Mutation | GCC,GCT | A,A 512 | XP_006718277.2 | |
XM_006718215.3 | 1131 | Silent Mutation | GCC,GCT | A,A 601 | XP_006718278.3 | |
XM_011520037.2 | 1131 | Silent Mutation | GCC,GCT | A,A 346 | XP_011518339.1 | |
XM_011520038.2 | 1131 | Silent Mutation | GCC,GCT | A,A 346 | XP_011518340.1 | |
XM_011520040.2 | 1131 | Silent Mutation | GCC,GCT | A,A 250 | XP_011518342.1 | |
XM_011520042.1 | 1131 | Silent Mutation | GCC,GCT | A,A 385 | XP_011518344.1 | |
XM_017017639.1 | 1131 | Silent Mutation | GCC,GCT | A,A 514 | XP_016873128.1 | |
XM_017017640.1 | 1131 | Silent Mutation | GCC,GCT | A,A 512 | XP_016873129.1 | |
XM_017017641.1 | 1131 | Silent Mutation | GCC,GCT | A,A 507 | XP_016873130.1 | |
XM_017017642.1 | 1131 | Silent Mutation | GCC,GCT | A,A 248 | XP_016873131.1 |
SMPD1 - sphingomyelin phosphodiesterase 1 | ||||||
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There are no transcripts associated with this gene. |