Product Details

SNP ID
rs145623330
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:19482693 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAATATCTTCCTTTTTTTCAGTTT[C/T]ATTATTTTATTCTCATAAACTGTGG
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_001178010.2 351 Missense Mutation CAT,TAT H70Y NP_001171481.1
NM_001178011.2 351 Intron NP_001171482.1
NM_003504.4 351 Missense Mutation CAT,TAT H70Y NP_003495.1
XM_005261285.2 351 Missense Mutation CAT,TAT H70Y XP_005261342.1
XM_005261286.3 351 Missense Mutation CAT,TAT H70Y XP_005261343.1
XM_011530415.1 351 Missense Mutation CAT,TAT H70Y XP_011528717.1
XM_011530416.1 351 Missense Mutation CAT,TAT H58Y XP_011528718.1
XM_011530417.2 351 Intron XP_011528719.1
XM_011530418.2 351 Intron XP_011528720.1
XM_017028966.1 351 Intron XP_016884455.1
XM_017028967.1 351 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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