Product Details

SNP ID
rs144693849
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:69251229 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCCAGAAGACCGAGATTACATGG[A/C]TACTCTCCCACCAACTGTTGGTGAT
Phenotype
MIM: 604979
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CPSF6 PubMed Links

Gene Details

Gene
CPSF6
Gene Name
cleavage and polyadenylation specific factor 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300947.1 271 Missense Mutation GAT,GCT D54A NP_001287876.1
NM_007007.2 271 Missense Mutation GAT,GCT D54A NP_008938.2
XM_005268588.2 271 Missense Mutation GAT,GCT D54A XP_005268645.1
XM_005268590.2 271 Missense Mutation GAT,GCT D54A XP_005268647.1

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