Product Details

SNP ID
rs188176311
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:43528632 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAGGGACTGTGTCCTCCTCACTGA[C/T]AGGCCGGTCAAACTCAGCCTTGAGA
Phenotype
MIM: 600396 MIM: 600711
Polymorphism
C/T, 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_001302623.1 785 Intron NP_001289552.1
NM_001322216.1 785 Intron NP_001309145.1
NM_001322217.1 785 Intron NP_001309146.1
NM_001322218.1 785 Intron NP_001309147.1
NM_001322219.1 785 Intron NP_001309148.1
NM_001322220.1 785 Intron NP_001309149.1
NM_001322221.1 785 Intron NP_001309150.1
NM_004941.2 785 Intron NP_004932.1
Gene
ETV4
Gene Name
ETS variant 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001079675.2 785 Missense Mutation ATC,GTC I448V NP_001073143.1
NM_001261437.1 785 Missense Mutation ATC,GTC I409V NP_001248366.1
NM_001261438.1 785 Missense Mutation ATC,GTC I409V NP_001248367.1
NM_001261439.1 785 Missense Mutation ATC,GTC I171V NP_001248368.1
NM_001986.2 785 Missense Mutation ATC,GTC I448V NP_001977.1
XM_011524514.1 785 Missense Mutation ATC,GTC I185V XP_011522816.1
XM_017024349.1 785 Missense Mutation ATC,GTC I443V XP_016879838.1

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