Product Details

SNP ID
rs142540006
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:49219401 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGAGGAGGCTGCGAAAAGTTAAGG[A/G]CCGGACCGCAGGCTGTGCTCGCTTC
Phenotype
MIM: 616621 MIM: 601716
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
DDX27 PubMed Links

Gene Details

Gene
DDX27
Gene Name
DEAD-box helicase 27
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017895.7 78 Missense Mutation ACC,GCC T16A NP_060365.7
XM_011528888.2 78 Missense Mutation ACC,GCC T16A XP_011527190.1
Gene
STAU1
Gene Name
staufen double-stranded RNA binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001037328.2 78 Intron NP_001032405.1
NM_001319134.1 78 Intron NP_001306063.1
NM_001319135.1 78 Intron NP_001306064.1
NM_001322927.1 78 Intron NP_001309856.1
NM_001322928.1 78 Intron NP_001309857.1
NM_001322929.1 78 Intron NP_001309858.1
NM_001322930.1 78 Intron NP_001309859.1
NM_001322931.1 78 Intron NP_001309860.1
NM_001322932.1 78 Intron NP_001309861.1
NM_001322933.1 78 Intron NP_001309862.1
NM_004602.3 78 Intron NP_004593.2
NM_017452.3 78 Intron NP_059346.2
NM_017453.3 78 Intron NP_059347.2
NM_017454.3 78 Intron NP_059348.2
XM_005260527.1 78 Intron XP_005260584.1
XM_006723865.1 78 Intron XP_006723928.1
XM_011529015.1 78 Intron XP_011527317.1
XM_017028028.1 78 Intron XP_016883517.1

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