Product Details

SNP ID
rs149361049
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:9490264 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCACTTCTGGTGACCGGATGGTC[C/T]GTGAGATCCTCAAATGACTTGGCAG
Phenotype
MIM: 603639
Polymorphism
C/T, Transition 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 2591 Silent Mutation ACA,ACG T796T NP_003174.3
XM_011510375.2 2591 Silent Mutation ACA,ACG T765T XP_011508677.1
XM_011510376.2 2591 Silent Mutation ACA,ACG T576T XP_011508678.1
XM_011510377.2 2591 Silent Mutation ACA,ACG T497T XP_011508679.1
XM_017004785.1 2591 Silent Mutation ACA,ACG T497T XP_016860274.1
XM_017004786.1 2591 Silent Mutation ACA,ACG T497T 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 2591 Intron NP_001034702.1
NM_001320858.1 2591 Intron NP_001307787.1
NM_001320859.1 2591 Intron NP_001307788.1
NM_001320860.1 2591 Intron NP_001307789.1
NM_001320863.1 2591 Intron NP_001307792.1
XM_017003878.1 2591 Intron XP_016859367.1

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