Product Details

SNP ID
rs7869523
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:112220269 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
ACTGCTGACTGATGGCACGGAGACA[C/T]TGAAAAGAACAGAGAGCCAGGCGTG
Phenotype
MIM: 607527
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PTBP3 PubMed Links

Gene Details

Gene
PTBP3
Gene Name
polypyrimidine tract binding protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001163788.2 5233 UTR 3 NP_001157260.1
NM_001163790.2 5233 UTR 3 NP_001157262.1
NM_001244896.1 5233 UTR 3 NP_001231825.1
NM_001244897.1 5233 Missense Mutation AAT,AGT N516S NP_001231826.1
NM_001244898.1 5233 UTR 3 NP_001231827.1
NM_005156.6 5233 UTR 3 NP_005147.3
XM_006717346.1 5233 UTR 3 XP_006717409.1
XM_011519265.1 5233 UTR 3 XP_011517567.1
XM_017015365.1 5233 UTR 3 XP_016870854.1

View Full Product Details