Product Details

SNP ID
rs143803246
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24574789 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCCCGTCTCTGGATATTGTGGGC[G/T]CCCAGGGTGACATTTATATTGCTGC
Phenotype
MIM: 116830
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CTSG PubMed Links

Gene Details

Gene
CTSG
Gene Name
cathepsin G
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001911.2 262 Silent Mutation NP_001902.1
XM_011536499.1 262 Silent Mutation XP_011534801.1

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