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CGGGAAGGAACTGCACTTGCGCCTG[C/T]GGCCCAATCGGAGGTTGGTAGTGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607506 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ADAMTS14 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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ADAMTS14 - ADAM metallopeptidase with thrombospondin type 1 motif 14 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_080722.4 | 649 | Missense Mutation | CGG,TGG | R,W 122 | NP_542453.2 | |
NM_139155.3 | 649 | Missense Mutation | CGG,TGG | R,W 122 | NP_631894.2 | |
XM_011539300.2 | 649 | Missense Mutation | CGG,TGG | R,W 122 | XP_011537602.1 | |
XM_011539301.2 | 649 | Intron | XP_011537603.1 | |||
XM_011539302.2 | 649 | Intron | XP_011537604.1 | |||
XM_011539303.2 | 649 | Missense Mutation | CGG,TGG | R,W 122 | XP_011537605.1 | |
XM_011539305.2 | 649 | Missense Mutation | CGG,TGG | R,W 122 | XP_011537607.1 | |
XM_011539306.2 | 649 | Missense Mutation | CGG,TGG | R,W 122 | XP_011537608.1 | |
XM_011539307.2 | 649 | Missense Mutation | CGG,TGG | R,W 122 | XP_011537609.1 | |
XM_011539308.2 | 649 | Missense Mutation | CGG,TGG | R,W 122 | XP_011537610.1 | |
XM_011539309.1 | 649 | Intron | XP_011537611.1 |