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TGGCCCAGGTACTGCACTGTCAGCC[C/T]CTCGACCTGCACACCGGAGTCCTGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
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Phenotype: |
MIM: 603876 MIM: 602985 | ||||||||||||||||||||
Literature Links: |
ADAMTS4 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 |
ADAMTS4 - ADAM metallopeptidase with thrombospondin type 1 motif 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320336.1 | 742 | Missense Mutation | AGG,GGG | R,G 106 | NP_001307265.1 | |
NM_005099.5 | 742 | Missense Mutation | AGG,GGG | R,G 106 | NP_005090.3 |
NDUFS2 - NADH:ubiquinone oxidoreductase core subunit S2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166159.1 | 742 | Intron | NP_001159631.1 | |||
NM_004550.4 | 742 | Intron | NP_004541.1 | |||
XM_005245208.2 | 742 | Intron | XP_005245265.1 | |||
XM_005245209.1 | 742 | Intron | XP_005245266.1 | |||
XM_017001357.1 | 742 | Intron | XP_016856846.1 |