Product Details

SNP ID
rs200465272
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:47818093 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTCCACCCATGTGTGTCAACCCT[A/G]CCCCAGGAGGGACCATCTCTCGAGG
Phenotype
MIM: 616423
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DHX30 PubMed Links

Gene Details

Gene
DHX30
Gene Name
DEAH-box helicase 30
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014966.3 526 UTR 5 NP_055781.2
NM_138615.2 526 Missense Mutation ACC,GCC T34A NP_619520.1
XM_006713033.1 526 Intron XP_006713096.1
XM_011533490.1 526 UTR 5 XP_011531792.1
XM_011533491.1 526 UTR 5 XP_011531793.1
XM_011533492.2 526 UTR 5 XP_011531794.1
XM_011533493.1 526 UTR 5 XP_011531795.1
XM_011533494.2 526 Missense Mutation ACC,GCC T34A XP_011531796.1
XM_011533495.1 526 Missense Mutation ACC,GCC T34A XP_011531797.1
XM_011533496.1 526 Missense Mutation ACC,GCC T6A XP_011531798.1
XM_011533497.2 526 Missense Mutation ACC,GCC T6A XP_011531799.1
XM_011533498.1 526 Missense Mutation ACC,GCC T6A XP_011531800.1
XM_017005914.1 526 Missense Mutation TAC,TGC Y68C XP_016861403.1
XM_017005915.1 526 Intron XP_016861404.1
XM_017005916.1 526 Missense Mutation ACC,GCC T34A XP_016861405.1
XM_017005917.1 526 UTR 5 XP_016861406.1

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