Product Details

SNP ID
rs147847671
Assay Type
Functionally tested
NCBI dbSNP Submissions
15
Location
Chr.1:248813053 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGCGGCTCTTGCCGATGGCCCTC[C/T]GGAGGGTCTTCTGCAGGGCTTGGAC
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SH3BP5L PubMed Links

Gene Details

Gene
SH3BP5L
Gene Name
SH3 binding domain protein 5 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322462.1 1087 Missense Mutation CAG,CGG Q97R NP_001309391.1
NM_001322463.1 1087 Missense Mutation CAG,CGG Q97R NP_001309392.1
NM_001322464.1 1087 Missense Mutation CAG,CGG Q49R NP_001309393.1
NM_030645.1 1087 Missense Mutation CAG,CGG Q216R NP_085148.1
XM_017002404.1 1087 Missense Mutation CAG,CGG Q74R XP_016857893.1
XM_017002405.1 1087 Missense Mutation CAG,CGG Q74R XP_016857894.1
XM_017002406.1 1087 Missense Mutation CAG,CGG Q74R XP_016857895.1
XM_017002407.1 1087 Missense Mutation CAG,CGG Q184R XP_016857896.1

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