Product Details

SNP ID
rs200846551
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:59565703 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGTTTCCCGCAGTCGCGGGCAGGG[A/C]GCCAAGGCGGCAGGAGGAGGGTGAG
Phenotype
MIM: 607570
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
DHX40 PubMed Links

Gene Details

Gene
DHX40
Gene Name
DEAH-box helicase 40
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166301.1 125 Missense Mutation GAG,GCG E11A NP_001159773.1
NM_024612.4 125 Missense Mutation GAG,GCG E11A NP_078888.4
XM_006722083.2 125 Missense Mutation GAG,GCG E11A XP_006722146.1
XM_011525253.2 125 Missense Mutation GAG,GCG E11A XP_011523555.1
XM_011525254.2 125 UTR 5 XP_011523556.1
XM_017025080.1 125 Missense Mutation GAG,GCG E11A XP_016880569.1
XM_017025081.1 125 UTR 5 XP_016880570.1
XM_017025082.1 125 UTR 5 XP_016880571.1
XM_017025083.1 125 UTR 5 XP_016880572.1

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