Product Details

SNP ID

rs199753286

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:19479979 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGCCGCCGTGGCTATGTTCGTGT[A/C]CGATTTCCGCAAAGAGTTCTACGAG

Phenotype

MIM: 603465 MIM: 601754

Polymorphism

A/C, Transversion 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	154	Missense Mutation	TAC,TCC	Y4S	NP_001171481.1
NM_001178011.2	154	Missense Mutation	TAC,TCC	Y4S	NP_001171482.1
NM_003504.4	154	Missense Mutation	TAC,TCC	Y4S	NP_003495.1
XM_005261285.2	154	Missense Mutation	TAC,TCC	Y4S	XP_005261342.1
XM_005261286.3	154	Missense Mutation	TAC,TCC	Y4S	XP_005261343.1
XM_011530415.1	154	Missense Mutation	TAC,TCC	Y4S	XP_011528717.1
XM_011530416.1	154	Intron			XP_011528718.1
XM_011530417.2	154	Missense Mutation	TAC,TCC	Y4S	XP_011528719.1
XM_011530418.2	154	Missense Mutation	TAC,TCC	Y4S	XP_011528720.1
XM_017028966.1	154	Intron			XP_016884455.1
XM_017028967.1	154	Intron			XP_016884456.1

Gene

UFD1L

Gene Name

ubiquitin fusion degradation 1 like (yeast)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001035247.2	154	Intron			NP_001030324.2
NM_005659.6	154	Intron			NP_005650.2
XM_011530361.2	154	Intron			XP_011528663.1

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