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AGAGTTCTTTTGACTTTTGGAGCAA[C/T]CGTTGCCTTCTTTGCCTTTGGGTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606184 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ADAMTS12 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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ADAMTS12 - ADAM metallopeptidase with thrombospondin type 1 motif 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001324511.1 | 5193 | Intron | NP_001311440.1 | |||
NM_001324512.1 | 5193 | Silent Mutation | CGA,CGG | R,R 1501 | NP_001311441.1 | |
NM_030955.3 | 5193 | Silent Mutation | CGA,CGG | R,R 1586 | NP_112217.2 | |
XM_017009905.1 | 5193 | Silent Mutation | CGA,CGG | R,R 1623 | XP_016865394.1 | |
XM_017009906.1 | 5193 | Silent Mutation | CGA,CGG | R,R 1459 | XP_016865395.1 | |
XM_017009907.1 | 5193 | Silent Mutation | CGA,CGG | R,R 1104 | XP_016865396.1 | |
XM_017009908.1 | 5193 | Silent Mutation | CGA,CGG | R,R 985 | XP_016865397.1 | |
XM_017009909.1 | 5193 | Silent Mutation | CGA,CGG | R,R 981 | XP_016865398.1 |