Product Details

SNP ID
rs148093044
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:9490453 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGCTGCAGGCGGCCTGGAGTCTG[C/G]GGCGCAGGAAAGGGTTTGATAATGC
Phenotype
MIM: 603639
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ADAM17 PubMed Links

Gene Details

Gene
ADAM17
Gene Name
ADAM metallopeptidase domain 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003183.5 2402 Silent Mutation CCC,CCG P733P NP_003174.3
XM_011510375.2 2402 Silent Mutation CCC,CCG P702P XP_011508677.1
XM_011510376.2 2402 Silent Mutation CCC,CCG P513P XP_011508678.1
XM_011510377.2 2402 Silent Mutation CCC,CCG P434P XP_011508679.1
XM_017004785.1 2402 Silent Mutation CCC,CCG P434P XP_016860274.1
XM_017004786.1 2402 Silent Mutation CCC,CCG P434P XP_016860275.1
Gene
IAH1
Gene Name
isoamyl acetate-hydrolyzing esterase 1 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039613.2 2402 Intron NP_001034702.1
NM_001320858.1 2402 Intron NP_001307787.1
NM_001320859.1 2402 Intron NP_001307788.1
NM_001320860.1 2402 Intron NP_001307789.1
NM_001320863.1 2402 Intron NP_001307792.1
XM_017003878.1 2402 Intron XP_016859367.1

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