Product Details

SNP ID
rs200116606
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:19482750 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTAGACCTATTGGATATTCTTCAA[C/T]CTGATGAAGACACTATATTCTTTGT
Phenotype
MIM: 603465 MIM: 601754
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CDC45 PubMed Links

Gene Details

Gene
CDC45
Gene Name
cell division cycle 45
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001178010.2 408 Missense Mutation CCT,TCT P89S NP_001171481.1
NM_001178011.2 408 Intron NP_001171482.1
NM_003504.4 408 Missense Mutation CCT,TCT P89S NP_003495.1
XM_005261285.2 408 Missense Mutation CCT,TCT P89S XP_005261342.1
XM_005261286.3 408 Missense Mutation CCT,TCT P89S XP_005261343.1
XM_011530415.1 408 Missense Mutation CCT,TCT P89S XP_011528717.1
XM_011530416.1 408 Missense Mutation CCT,TCT P77S XP_011528718.1
XM_011530417.2 408 Intron XP_011528719.1
XM_011530418.2 408 Intron XP_011528720.1
XM_017028966.1 408 Intron XP_016884455.1
XM_017028967.1 408 Intron XP_016884456.1
Gene
UFD1L
Gene Name
ubiquitin fusion degradation 1 like (yeast)
There are no transcripts associated with this gene.

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