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TCCCCTCTGTGTGGCCGGAATCCTT[A/G]CCTGTGGCTTTCTCCTGGGCTGCTG
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 | |||
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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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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 | 502 | Missense Mutation | ACC,GCC | T,A 20 | NP_620594.1 | |
NM_139026.4 | 502 | Missense Mutation | ACC,GCC | T,A 20 | NP_620595.1 | |
NM_139027.4 | 502 | Missense Mutation | ACC,GCC | T,A 20 | NP_620596.2 | |
XM_011518176.2 | 502 | Intron | XP_011516478.1 | |||
XM_011518178.1 | 502 | Intron | XP_011516480.1 | |||
XM_011518179.1 | 502 | Intron | XP_011516481.1 | |||
XM_017014232.1 | 502 | Intron | XP_016869721.1 | |||
XM_017014233.1 | 502 | Intron | XP_016869722.1 | |||
XM_017014234.1 | 502 | Intron | XP_016869723.1 | |||
XM_017014235.1 | 502 | Missense Mutation | ACC,GCC | T,A 20 | XP_016869724.1 |
REXO4 - REX4 homolog, 3'-5' exonuclease | ||||||
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There are no transcripts associated with this gene. |