Product Details

SNP ID
rs143852111
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18929465 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTCAGGGCGCAGCCTCAGCCAGG[C/T]GGGCCAGGCCCTCACGCAGCTCACT
Phenotype
MIM: 604800
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DDX49 PubMed Links

Gene Details

Gene
DDX49
Gene Name
DEAD-box helicase 49
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019070.4 1154 Intron NP_061943.2
XM_011528083.1 1154 Intron XP_011526385.1
XM_011528084.2 1154 Intron XP_011526386.1
Gene
HOMER3
Gene Name
homer scaffolding protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145721.1 1154 Missense Mutation NP_001139193.1
NM_001145722.1 1154 Missense Mutation NP_001139194.1
NM_001145724.1 1154 Missense Mutation NP_001139196.1
NM_004838.3 1154 Missense Mutation NP_004829.3
XM_006722943.1 1154 Missense Mutation XP_006723006.1
XM_006722944.1 1154 Missense Mutation XP_006723007.1

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