Product Details

SNP ID
rs3760126
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:75668124 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGAACAAGTTACCTAACAACATAT[C/G]AGGACCTTAGCTTCCTCATCTGGAA
Phenotype
MIM: 603781 MIM: 610218
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
RECQL5 PubMed Links

Gene Details

Gene
RECQL5
Gene Name
RecQ like helicase 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001003715.3 Intron NP_001003715.1
NM_001003716.3 Intron NP_001003716.1
NM_004259.6 Intron NP_004250.4
XM_005257818.3 Intron XP_005257875.1
XM_005257822.3 Intron XP_005257879.1
XM_005257823.3 Intron XP_005257880.1
XM_006722186.2 Intron XP_006722249.1
XM_011525482.2 Intron XP_011523784.1
XM_011525484.1 Intron XP_011523786.1
XM_011525485.2 Intron XP_011523787.1
XM_011525486.2 Intron XP_011523788.1
XM_017025343.1 Intron XP_016880832.1
XM_017025344.1 Intron XP_016880833.1
Gene
SAP30BP
Gene Name
SAP30 binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301839.1 Intron NP_001288768.1
NM_001301855.1 Intron NP_001288784.1
NM_013260.7 Intron NP_037392.1
XM_011524693.2 Intron XP_011522995.1
XM_011524694.2 Intron XP_011522996.1
XM_011524695.2 Intron XP_011522997.1
XM_017024545.1 Intron XP_016880034.1
XM_017024546.1 Intron XP_016880035.1
XM_017024547.1 Intron XP_016880036.1
XM_017024548.1 Intron XP_016880037.1
XM_017024549.1 Intron XP_016880038.1
XM_017024550.1 Intron XP_016880039.1

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