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TCATCGAGTTTGCAAACACAGTGGC[C/G]GAGAAGGTGGACCGGCTGCGCTCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604134 MIM: 613104 MIM: 606813 | ||||||||||||||||||||||||||||||||||||||
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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There are no transcripts associated with this gene. |
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 | 372 | Intron | NP_001129247.1 | |||
NM_001242369.1 | 372 | Silent Mutation | GCC,GCG | A,A 90 | NP_001229298.1 | |
NM_001242370.1 | 372 | Intron | NP_001229299.1 | |||
NM_017586.3 | 372 | Silent Mutation | GCC,GCG | A,A 90 | NP_060056.1 | |
XM_011518181.2 | 372 | Silent Mutation | GCC,GCG | A,A 62 | XP_011516483.1 | |
XM_011518182.1 | 372 | Silent Mutation | GCC,GCG | A,A 27 | XP_011516484.1 | |
XM_011518184.1 | 372 | Intron | XP_011516486.1 | |||
XM_011518185.2 | 372 | Silent Mutation | GCC,GCG | A,A 62 | XP_011516487.1 | |
XM_011518186.1 | 372 | Silent Mutation | GCC,GCG | A,A 27 | XP_011516488.1 |
SLC2A6 - solute carrier family 2 member 6 | ||||||
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There are no transcripts associated with this gene. |