Product Details

SNP ID
rs113504178
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53269649 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGATCAGAGCCTTGGTGGGTGAGA[C/G]AGGGAGCTCTTCTGGGCTTCTTTCT
Phenotype
MIM: 604143
Polymorphism
C/G, Transversion 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_012291.4 798 Missense Mutation ACA,AGA T236R NP_036423.4
XM_006719705.3 798 Missense Mutation ACA,AGA T236R XP_006719768.1
XM_011539024.2 798 Missense Mutation ACA,AGA T236R XP_011537326.1
XM_011539025.2 798 Missense Mutation ACA,AGA T236R XP_011537327.1
XM_017020253.1 798 UTR 5 XP_016875742.1

View Full Product Details