Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACGGTGGCACCATGAGCAGCTCAGG[C/T]GGGGCGCCCGGGGCGTCCGCCAGCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604134 MIM: 613104 | ||||||||||||||||||||
Literature Links: |
ADAMTS13 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
ADAMTS13 - ADAM metallopeptidase with thrombospondin type 1 motif 13 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_139025.4 | 117 | Intron | NP_620594.1 | |||
NM_139026.4 | 117 | Intron | NP_620595.1 | |||
NM_139027.4 | 117 | Intron | NP_620596.2 | |||
XM_011518176.2 | 117 | Intron | XP_011516478.1 | |||
XM_011518178.1 | 117 | Intron | XP_011516480.1 | |||
XM_011518179.1 | 117 | Intron | XP_011516481.1 | |||
XM_017014232.1 | 117 | Intron | XP_016869721.1 | |||
XM_017014233.1 | 117 | Intron | XP_016869722.1 | |||
XM_017014234.1 | 117 | Intron | XP_016869723.1 | |||
XM_017014235.1 | 117 | Intron | XP_016869724.1 |
CACFD1 - calcium channel flower domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135775.2 | 117 | Silent Mutation | GGC,GGT | G,G 5 | NP_001129247.1 | |
NM_001242369.1 | 117 | Silent Mutation | GGC,GGT | G,G 5 | NP_001229298.1 | |
NM_001242370.1 | 117 | Silent Mutation | GGC,GGT | G,G 5 | NP_001229299.1 | |
NM_017586.3 | 117 | Silent Mutation | GGC,GGT | G,G 5 | NP_060056.1 | |
XM_011518181.2 | 117 | Intron | XP_011516483.1 | |||
XM_011518182.1 | 117 | UTR 5 | XP_011516484.1 | |||
XM_011518184.1 | 117 | Intron | XP_011516486.1 | |||
XM_011518185.2 | 117 | Intron | XP_011516487.1 | |||
XM_011518186.1 | 117 | UTR 5 | XP_011516488.1 |