Product Details

SNP ID
rs139963886
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42102244 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCACAGTTCCTGCAGCTGATGACA[A/C]CCCCAGGCTTCCAGTCCTTGAAGAC
Phenotype
MIM: 608588
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
DHX58 PubMed Links

Gene Details

Gene
DHX58
Gene Name
DEXH-box helicase 58
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024119.2 2042 Missense Mutation GGT,GTT G608V NP_077024.2
XM_017025059.1 2042 Missense Mutation GGT,GTT G608V XP_016880548.1
XM_017025060.1 2042 Missense Mutation GGT,GTT G608V XP_016880549.1

View Full Product Details