Product Details

SNP ID
rs112642722
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:51698061 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGGATTCCCCACCCCTGAAATGC[C/T]TGGGACCTGTCTGGGTCCCTGAGGA
Phenotype
MIM: 611968 MIM: 176894
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CSTF2T PubMed Links

Gene Details

Gene
CSTF2T
Gene Name
cleavage stimulation factor subunit 2, tau variant
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015235.2 1535 Missense Mutation AGC,GGC S497G NP_056050.1
Gene
PRKG1
Gene Name
protein kinase, cGMP-dependent, type I
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098512.2 1535 Intron NP_001091982.1
NM_006258.3 1535 Intron NP_006249.1
XM_011539952.2 1535 Intron XP_011538254.1
XM_017016412.1 1535 Intron XP_016871901.1
XM_017016413.1 1535 Intron XP_016871902.1

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