Product Details

SNP ID
rs147120845
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:29817203 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCCCCACACCTGACAAAGAAGAT[C/G]ATGACCGGGTTTACCCAAACTCAAC
Phenotype
MIM: 123837
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CCNE1 PubMed Links

Gene Details

Gene
CCNE1
Gene Name
cyclin E1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001238.3 430 Missense Mutation CAT,GAT H83D NP_001229.1
NM_001322259.1 430 Missense Mutation CAT,GAT H83D NP_001309188.1
NM_001322261.1 430 Missense Mutation CAT,GAT H83D NP_001309190.1
NM_001322262.1 430 Missense Mutation CAT,GAT H68D NP_001309191.1
XM_011527440.2 430 Missense Mutation CAT,GAT H80D XP_011525742.1

View Full Product Details