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GCTGTCACCCTCAAGCAGGCAGGTT[A/G]TTCTGAGTGCTCTTCCTAGCGAAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615850 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
VPS53 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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VPS53 - VPS53, GARP complex subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001128159.2 | 8415 | UTR 3 | NP_001121631.1 | |||
NM_018289.3 | 8415 | Intron | NP_060759.2 | |||
XM_011523953.2 | 8415 | Intron | XP_011522255.1 | |||
XM_017024817.1 | 8415 | UTR 3 | XP_016880306.1 | |||
XM_017024818.1 | 8415 | UTR 3 | XP_016880307.1 |