Product Details

SNP ID
rs201330739
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:51697910 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTTGCTTGCTTGCCCCCTGTATA[A/C]CTCCTCCTTGTATACCTCCTCCTTG
Phenotype
MIM: 611968 MIM: 176894
Polymorphism
A/C, Transversion 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 1686 Missense Mutation GGT,GTT G547V 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 1686 Intron NP_001091982.1
NM_006258.3 1686 Intron NP_006249.1
XM_011539952.2 1686 Intron XP_011538254.1
XM_017016412.1 1686 Intron XP_016871901.1
XM_017016413.1 1686 Intron XP_016871902.1

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