Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCCAGTTTTGGAGCTGCTGGCGCC[A/G]AAGGGATCACAGGGGCAGGCTGCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 603639 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ADAM17 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
ADAM17 - ADAM metallopeptidase domain 17 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003183.5 | 2443 | Missense Mutation | TCG,TTG | S,L 747 | NP_003174.3 | |
XM_011510375.2 | 2443 | Missense Mutation | TCG,TTG | S,L 716 | XP_011508677.1 | |
XM_011510376.2 | 2443 | Missense Mutation | TCG,TTG | S,L 527 | XP_011508678.1 | |
XM_011510377.2 | 2443 | Missense Mutation | TCG,TTG | S,L 448 | XP_011508679.1 | |
XM_017004785.1 | 2443 | Missense Mutation | TCG,TTG | S,L 448 | XP_016860274.1 | |
XM_017004786.1 | 2443 | Missense Mutation | TCG,TTG | S,L 448 | XP_016860275.1 |
IAH1 - isoamyl acetate-hydrolyzing esterase 1 homolog | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039613.2 | 2443 | Intron | NP_001034702.1 | |||
NM_001320858.1 | 2443 | Intron | NP_001307787.1 | |||
NM_001320859.1 | 2443 | Intron | NP_001307788.1 | |||
NM_001320860.1 | 2443 | Intron | NP_001307789.1 | |||
NM_001320863.1 | 2443 | Intron | NP_001307792.1 | |||
XM_017003878.1 | 2443 | Intron | XP_016859367.1 |