Product Details

SNP ID
rs141196278
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:15465545 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTAGTTATCTAGTGTAGAATCCTTC[A/T]GAGATATTTCAGTCTCTCTCTCTTC
Phenotype
MIM: 603620 MIM: 602348
Polymorphism
A/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 3263 Missense Mutation CAG,CTG Q523L NP_001121689.1
NM_001317898.1 3263 Intron NP_001304827.1
NM_001317900.1 3263 Intron NP_001304829.1
NM_021144.3 3263 Intron NP_066967.3
NM_033222.4 3263 Missense Mutation CAG,CTG Q523L 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 3263 Intron NP_001034786.1
XM_017015056.1 3263 UTR 3 XP_016870545.1
XM_017015057.1 3263 UTR 3 XP_016870546.1

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