Product Details

SNP ID
rs202041986
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:9490498 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAATGCGAACCGATGCAGAATCCAT[A/G]CTGCTCAGCATTTCGACGTTCTGCA
Phenotype
MIM: 603639
Polymorphism
A/G, 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 2357 Silent Mutation AGC,AGT S718S NP_003174.3
XM_011510375.2 2357 Silent Mutation AGC,AGT S687S XP_011508677.1
XM_011510376.2 2357 Silent Mutation AGC,AGT S498S XP_011508678.1
XM_011510377.2 2357 Silent Mutation AGC,AGT S419S XP_011508679.1
XM_017004785.1 2357 Silent Mutation AGC,AGT S419S XP_016860274.1
XM_017004786.1 2357 Silent Mutation AGC,AGT S419S 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 2357 Intron NP_001034702.1
NM_001320858.1 2357 Intron NP_001307787.1
NM_001320859.1 2357 Intron NP_001307788.1
NM_001320860.1 2357 Intron NP_001307789.1
NM_001320863.1 2357 Intron NP_001307792.1
XM_017003878.1 2357 Intron XP_016859367.1

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