Product Details

SNP ID
rs202241654
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:73276885 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGACCAGGCTGGGTGACTGATGG[A/G]GATGGGCAGCCTGAGGGTGGCCTGC
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 1936 Missense Mutation CCC,CTC P550L NP_001005743.1
NM_001005744.1 1936 Missense Mutation CCC,CTC P502L NP_001005744.1
NM_001005745.1 1936 Missense Mutation CCC,CTC P491L NP_001005745.1
NM_001320114.1 1936 Missense Mutation CCC,CTC P502L NP_001307043.1
NM_003744.5 1936 Missense Mutation CCC,CTC P539L NP_003735.3
Gene
PAPLN
Gene Name
papilin, proteoglycan like sulfated glycoprotein
There are no transcripts associated with this gene.

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