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CACCAGCCATGGACTGCTACACGGC[A/G]AACTGGAACCCACTCGGGGACTCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608550 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PCED1A 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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PCED1A - PC-esterase domain containing 1A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271168.1 | 96 | Intron | NP_001258097.1 | |||
NM_022760.4 | 96 | Intron | NP_073597.2 | |||
XM_005260804.2 | 96 | Intron | XP_005260861.1 | |||
XM_005260805.2 | 96 | Intron | XP_005260862.1 | |||
XM_005260806.3 | 96 | Intron | XP_005260863.1 |
VPS16 - VPS16, CORVET/HOPS core subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022575.3 | 96 | Silent Mutation | GCA,GCG | A,A 6 | NP_072097.2 | |
NM_080413.2 | 96 | Silent Mutation | GCA,GCG | A,A 6 | NP_536338.1 |