Product Details

SNP ID
rs142528308
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53268793 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGGAGCTTCAAAAGAGTCAACTT[C/T]GGGACTCTGCTAAGCAGCCAGAAGG
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_012291.4 118 Silent Mutation TTC,TTT F9F NP_036423.4
XM_006719705.3 118 Silent Mutation TTC,TTT F9F XP_006719768.1
XM_011539024.2 118 Silent Mutation TTC,TTT F9F XP_011537326.1
XM_011539025.2 118 Silent Mutation TTC,TTT F9F XP_011537327.1
XM_017020253.1 118 UTR 5 XP_016875742.1

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