Product Details

SNP ID
rs147475968
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:73276646 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTTGGTAGGGGAGGGATTAGTAC[A/G]CTGCTTGGACTTATTTTCTAATGCA
Phenotype
MIM: 603728
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NUMB PubMed Links

Gene Details

Gene
NUMB
Gene Name
NUMB, endocytic adaptor protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005743.1 2175 Missense Mutation CGT,TGT R630C NP_001005743.1
NM_001005744.1 2175 Missense Mutation CGT,TGT R582C NP_001005744.1
NM_001005745.1 2175 Missense Mutation CGT,TGT R571C NP_001005745.1
NM_001320114.1 2175 Missense Mutation CGT,TGT R582C NP_001307043.1
NM_003744.5 2175 Missense Mutation CGT,TGT R619C NP_003735.3
Gene
PAPLN
Gene Name
papilin, proteoglycan like sulfated glycoprotein
There are no transcripts associated with this gene.

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