Product Details

SNP ID
rs145536592
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53269423 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGGGGGCAGAAGCCCTGTTGGAA[C/T]GGCGAGCTGCATTTGCAGCTCGGCT
Phenotype
MIM: 604143
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ESPL1 PubMed Links

Gene Details

Gene
ESPL1
Gene Name
extra spindle pole bodies like 1, separase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012291.4 572 Missense Mutation CGG,TGG R161W NP_036423.4
XM_006719705.3 572 Missense Mutation CGG,TGG R161W XP_006719768.1
XM_011539024.2 572 Missense Mutation CGG,TGG R161W XP_011537326.1
XM_011539025.2 572 Missense Mutation CGG,TGG R161W XP_011537327.1
XM_017020253.1 572 UTR 5 XP_016875742.1

View Full Product Details