Product Details

SNP ID
rs142437129
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:73276809 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGGTGCTGAGCAGGAGGCTTAAA[C/G]AAGGGACTGGTGGTAGCACTGCTTG
Phenotype
MIM: 603728
Polymorphism
C/G, Transversion 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 2012 Missense Mutation TTC,TTG F575L NP_001005743.1
NM_001005744.1 2012 Missense Mutation TTC,TTG F527L NP_001005744.1
NM_001005745.1 2012 Missense Mutation TTC,TTG F516L NP_001005745.1
NM_001320114.1 2012 Missense Mutation TTC,TTG F527L NP_001307043.1
NM_003744.5 2012 Missense Mutation TTC,TTG F564L NP_003735.3
Gene
PAPLN
Gene Name
papilin, proteoglycan like sulfated glycoprotein
There are no transcripts associated with this gene.

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