Product Details

SNP ID
rs34698453
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:55453356 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGGAAGAGGCCCAGCAGTCCGCT[C/G]TCTGGGGCGGGCTCCTTGATGAGTT
Phenotype
MIM: 612928
Polymorphism
C/G, Transversion 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_001136201.1 744 Missense Mutation GAC,GAG D190E NP_001129673.1
NM_001136202.1 744 Missense Mutation GAC,GAG D120E NP_001129674.1
NM_024710.2 744 Missense Mutation GAC,GAG D206E NP_078986.1

View Full Product Details