Product Details

SNP ID
rs114140652
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:75641401 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCCAAGTAAAAGCTTTTGTGTTA[C/T]GTGTTTCTGCGGTGCCGGACTCCCT
Phenotype
MIM: 603781
Polymorphism
C/T, Transition 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 1543 Intron NP_001003715.1
NM_001003716.3 1543 Intron NP_001003716.1
NM_004259.6 1543 Intron NP_004250.4
XM_005257818.3 1543 Intron XP_005257875.1
XM_005257822.3 1543 Intron XP_005257879.1
XM_005257823.3 1543 Intron XP_005257880.1
XM_006722186.2 1543 Intron XP_006722249.1
XM_011525482.2 1543 Intron XP_011523784.1
XM_011525484.1 1543 Intron XP_011523786.1
XM_011525485.2 1543 Intron XP_011523787.1
XM_011525486.2 1543 Intron XP_011523788.1
XM_017025343.1 1543 Intron XP_016880832.1
XM_017025344.1 1543 Intron XP_016880833.1
Gene
SMIM5
Gene Name
small integral membrane protein 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001162995.2 1543 UTR 3 NP_001156467.1
XM_011525116.2 1543 Intron XP_011523418.1
XM_011525118.2 1543 UTR 3 XP_011523420.1
XM_011525119.2 1543 UTR 3 XP_011523421.1
XM_017024943.1 1543 Intron XP_016880432.1
XM_017024944.1 1543 Intron XP_016880433.1
XM_017024945.1 1543 UTR 3 XP_016880434.1
XM_017024946.1 1543 UTR 3 XP_016880435.1
XM_017024947.1 1543 UTR 3 XP_016880436.1
XM_017024948.1 1543 UTR 3 XP_016880437.1
Gene
SMIM6
Gene Name
small integral membrane protein 6
There are no transcripts associated with this gene.

View Full Product Details