Product Details

SNP ID
rs200211751
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48407039 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCCTCCAGTACCTTTCCACCATC[C/T]GCTTGTACCGGGGAATGTCCCGTGC
Phenotype
MIM: 601053
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PLXNB1 PubMed Links

Gene Details

Gene
PLXNB1
Gene Name
plexin B1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130082.2 9828 Missense Mutation CAG,CGG Q2047R NP_001123554.1
NM_002673.5 9828 Missense Mutation CAG,CGG Q2047R NP_002664.2
XM_011533833.2 9828 Missense Mutation CAG,CGG Q2048R XP_011532135.1
XM_011533834.1 9828 Missense Mutation CAG,CGG Q2048R XP_011532136.1
XM_011533835.1 9828 Missense Mutation CAG,CGG Q2048R XP_011532137.1
XM_011533836.1 9828 Missense Mutation CAG,CGG Q2048R XP_011532138.1
XM_011533837.2 9828 Missense Mutation CAG,CGG Q2048R XP_011532139.1
XM_017006630.1 9828 Missense Mutation CAG,CGG Q2048R XP_016862119.1
XM_017006631.1 9828 Missense Mutation CAG,CGG Q2047R XP_016862120.1

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