Product Details

SNP ID
rs202152016
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:55455646 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTCAGCATCTCACCAAGATGCAG[A/G]CCTGTGCCTCAATGCCACAGAGCAG
Phenotype
MIM: 612928
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ISOC2 PubMed Links

Gene Details

Gene
ISOC2
Gene Name
isochorismatase domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001136201.1 512 Missense Mutation GCC,GTC A113V NP_001129673.1
NM_001136202.1 512 Intron NP_001129674.1
NM_024710.2 512 Missense Mutation GCC,GTC A113V NP_078986.1

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