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AGGCAGAGGCAGAGGCAGAGGCGGG[C/G]TGCAGGCGGCATCCTACACCTGGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604134 MIM: 602930 | ||||||||||||||||||||
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 | 668 | Missense Mutation | GCT,GGT | A,G 75 | NP_620594.1 | |
NM_139026.4 | 668 | Missense Mutation | GCT,GGT | A,G 75 | NP_620595.1 | |
NM_139027.4 | 668 | Missense Mutation | GCT,GGT | A,G 75 | NP_620596.2 | |
XM_011518176.2 | 668 | Intron | XP_011516478.1 | |||
XM_011518178.1 | 668 | Intron | XP_011516480.1 | |||
XM_011518179.1 | 668 | Intron | XP_011516481.1 | |||
XM_017014232.1 | 668 | Missense Mutation | GCT,GGT | A,G 71 | XP_016869721.1 | |
XM_017014233.1 | 668 | UTR 5 | XP_016869722.1 | |||
XM_017014234.1 | 668 | Intron | XP_016869723.1 | |||
XM_017014235.1 | 668 | Missense Mutation | GCT,GGT | A,G 75 | XP_016869724.1 |
REXO4 - REX4 homolog, 3'-5' exonuclease | ||||||
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There are no transcripts associated with this gene. |