Product Details

SNP ID
rs148256420
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:43408045 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAAGTTCTGCTGTTGGTCTGATA[A/C]CAAGAGTACCTTCAGATTCTGGAAA
Phenotype
MIM: 605230 MIM: 609610
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
TP53BP1 PubMed Links

Gene Details

Gene
TP53BP1
Gene Name
tumor protein p53 binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001141979.1 5606 Missense Mutation GTA,TTA V1880L NP_001135451.1
NM_001141980.1 5606 Missense Mutation GTA,TTA V1882L NP_001135452.1
NM_005657.2 5606 Missense Mutation GTA,TTA V1877L NP_005648.1
XM_011521985.1 5606 Missense Mutation GTA,TTA V1832L XP_011520287.1
XM_011521986.2 5606 Intron XP_011520288.1
XM_017022533.1 5606 Missense Mutation GTA,TTA V922L XP_016878022.1
Gene
TUBGCP4
Gene Name
tubulin gamma complex associated protein 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286414.2 5606 Intron NP_001273343.1
NM_014444.4 5606 Intron NP_055259.2
XM_011521454.2 5606 UTR 3 XP_011519756.1
XM_011521455.2 5606 UTR 3 XP_011519757.1
XM_017022078.1 5606 UTR 3 XP_016877567.1

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