Product Details

SNP ID
rs147121502
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42101780 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTGGTCAGTCCAGGGAGAGGTCC[A/G]ACAAGTTCTCGGCACAATGCTGCAG
Phenotype
MIM: 608588
Polymorphism
A/G, Transition 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 2237 Missense Mutation TCG,TTG S673L NP_077024.2
XM_017025059.1 2237 Missense Mutation TCG,TTG S673L XP_016880548.1
XM_017025060.1 2237 Missense Mutation TCG,TTG S673L XP_016880549.1

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