Product Details

SNP ID
rs201652868
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:15466796 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGTCTTTGCTGTCTTCATTGCTC[G/T]CCCCGTTATGTTGTGGCTGATTACC
Phenotype
MIM: 603620 MIM: 602348
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
PSIP1 PubMed Links

Gene Details

Gene
PSIP1
Gene Name
PC4 and SFRS1 interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001128217.2 1828 Missense Mutation GAG,GCG E495A NP_001121689.1
NM_001317898.1 1828 Intron NP_001304827.1
NM_001317900.1 1828 Intron NP_001304829.1
NM_021144.3 1828 Intron NP_066967.3
NM_033222.4 1828 Missense Mutation GAG,GCG E495A NP_150091.2
Gene
SNAPC3
Gene Name
small nuclear RNA activating complex polypeptide 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039697.1 1828 Intron NP_001034786.1
XM_017015056.1 1828 Intron XP_016870545.1
XM_017015057.1 1828 Intron XP_016870546.1

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