Product Details

SNP ID
rs148814820
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:19565058 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACTTCCCCATGTTCTTTTTATAC[C/T]GGATTCTTTTGTTGCCAAACCAGTT
Phenotype
MIM: 608127
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PBX4 PubMed Links

Gene Details

Gene
PBX4
Gene Name
PBX homeobox 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_025245.2 768 Missense Mutation CAG,CGG Q267R NP_079521.1
XM_006722911.3 768 Missense Mutation CAG,CGG Q181R XP_006722974.1
XM_011528320.2 768 Missense Mutation CAG,CGG Q284R XP_011526622.1
XM_011528322.2 768 Missense Mutation CAG,CGG Q181R XP_011526624.1
XM_017027326.1 768 Missense Mutation CAG,CGG Q250R XP_016882815.1
XM_017027327.1 768 Missense Mutation CAG,CGG Q236R XP_016882816.1
XM_017027328.1 768 Missense Mutation CAG,CGG Q284R XP_016882817.1
XM_017027329.1 768 Missense Mutation CAG,CGG Q102R XP_016882818.1
XM_017027330.1 768 Intron XP_016882819.1

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