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AAAAGTAATCCTTTCCCCTGTCCAA[C/G]TGCAGAACCAGAATGTCCTCAATTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
6 submissions
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Phenotype: |
MIM: 147264 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
INPP5B 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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INPP5B - inositol polyphosphate-5-phosphatase B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001297434.1 | 2183 | Silent Mutation | CAC,CAG | H,Q 520 | NP_001284363.1 | |
NM_005540.2 | 2183 | Silent Mutation | CAC,CAG | H,Q 684 | NP_005531.2 | |
XM_006710621.3 | 2183 | Intron | XP_006710684.2 | |||
XM_011541392.2 | 2183 | Silent Mutation | CAC,CAG | H,Q 491 | XP_011539694.1 | |
XM_011541393.2 | 2183 | Silent Mutation | CAC,CAG | H,Q 491 | XP_011539695.1 | |
XM_017001206.1 | 2183 | Silent Mutation | CAC,CAG | H,Q 684 | XP_016856695.1 | |
XM_017001207.1 | 2183 | Silent Mutation | CAC,CAG | H,Q 565 | XP_016856696.1 | |
XM_017001208.1 | 2183 | Intron | XP_016856697.1 | |||
XM_017001209.1 | 2183 | Silent Mutation | CAC,CAG | H,Q 464 | XP_016856698.1 |