Product Details

SNP ID
rs200460795
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:122564516 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACGAAGGAAGCTGGAGAGCTACTT[A/C]CAGAGCTCTAAGTCCTCGGGCGGCG
Phenotype
MIM: 613143 MIM: 612065
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
DTX3L PubMed Links

Gene Details

Gene
DTX3L
Gene Name
deltex E3 ubiquitin ligase 3L
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138287.3 179 Silent Mutation TTA,TTC L30F NP_612144.1
Gene
PARP9
Gene Name
poly(ADP-ribose) polymerase family member 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001146102.1 179 Intron NP_001139574.1
NM_001146103.1 179 UTR 5 NP_001139575.1
NM_001146104.1 179 Intron NP_001139576.1
NM_001146105.1 179 Intron NP_001139577.1
NM_001146106.1 179 Intron NP_001139578.1
NM_031458.2 179 UTR 5 NP_113646.2
XM_005247820.2 179 Intron XP_005247877.1
XM_011513218.1 179 Intron XP_011511520.1
XM_017007304.1 179 Intron XP_016862793.1
XM_017007305.1 179 Intron XP_016862794.1
XM_017007306.1 179 Intron XP_016862795.1

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