Product Details

SNP ID
rs192576222
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:43489511 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTGATACTTTTAAGGCTTCTCTC[A/G]TCAAAAATGGTGCAGAATTTACGGT
Phenotype
MIM: 600396
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DHX8 PubMed Links

Gene Details

Gene
DHX8
Gene Name
DEAH-box helicase 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001302623.1 332 Missense Mutation ATC,GTC I71V NP_001289552.1
NM_001322216.1 332 UTR 5 NP_001309145.1
NM_001322217.1 332 Intron NP_001309146.1
NM_001322218.1 332 Missense Mutation ATC,GTC I71V NP_001309147.1
NM_001322219.1 332 Missense Mutation ATC,GTC I71V NP_001309148.1
NM_001322220.1 332 Missense Mutation ATC,GTC I71V NP_001309149.1
NM_001322221.1 332 Missense Mutation ATC,GTC I71V NP_001309150.1
NM_004941.2 332 Missense Mutation ATC,GTC I71V NP_004932.1

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