Product Details

SNP ID
rs200688643
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:19482787 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTATATTCTTTGTGTGTGACACCC[A/G]TAGGCCAGTCAATGTCGTCAATGTA
Phenotype
MIM: 603465 MIM: 601754
Polymorphism
A/G, 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_001178010.2 445 Missense Mutation CAT,CGT H101R NP_001171481.1
NM_001178011.2 445 Intron NP_001171482.1
NM_003504.4 445 Missense Mutation CAT,CGT H101R NP_003495.1
XM_005261285.2 445 Missense Mutation CAT,CGT H101R XP_005261342.1
XM_005261286.3 445 Missense Mutation CAT,CGT H101R XP_005261343.1
XM_011530415.1 445 Missense Mutation CAT,CGT H101R XP_011528717.1
XM_011530416.1 445 Missense Mutation CAT,CGT H89R XP_011528718.1
XM_011530417.2 445 Intron XP_011528719.1
XM_011530418.2 445 Intron XP_011528720.1
XM_017028966.1 445 Intron XP_016884455.1
XM_017028967.1 445 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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