Product Details

SNP ID
rs144189375
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:200648479 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCATACTTGAAGGCATATCAAAA[C/T]TGACAACCAGCCTGACACTGATCAA
Phenotype
MIM: 615464
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DDX59 PubMed Links

Gene Details

Gene
DDX59
Gene Name
DEAD-box helicase 59
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001031725.5 1972 Missense Mutation AAT,AGT N519S NP_001026895.2
NM_001320181.1 1972 Missense Mutation AAT,AGT N519S NP_001307110.1
NM_001320182.1 1972 Missense Mutation AAT,AGT N405S NP_001307111.1
XM_005245519.1 1972 Intron XP_005245576.1
XM_005245521.2 1972 Missense Mutation AAT,AGT N435S XP_005245578.1
XM_006711562.1 1972 Missense Mutation AAT,AGT N519S XP_006711625.1
XM_011510035.2 1972 Missense Mutation AAT,AGT N519S XP_011508337.1
XM_017002431.1 1972 Intron XP_016857920.1
XM_017002432.1 1972 Missense Mutation AAT,AGT N519S XP_016857921.1

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