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TTACAGGCTTCCAAGCCTACAAACT[A/G]CGGGTGACACACCTGTACCAACTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608549 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
VPS11 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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VPS11 - VPS11, CORVET/HOPS core subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001290185.1 | 285 | Silent Mutation | CTA,CTG | L,L 75 | NP_001277114.1 | |
NM_021729.5 | 285 | Silent Mutation | CTA,CTG | L,L 85 | NP_068375.3 | |
XM_011542898.1 | 285 | Intron | XP_011541200.1 | |||
XM_011542899.2 | 285 | UTR 5 | XP_011541201.1 |