Product Details

SNP ID
rs35625053
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:73276608 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTCAATTTCAAACGTCTTCTGTAA[C/G]TCACTGGAGAAAGGGTTGGTAGGGG
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 2213 Missense Mutation GAC,GAG D642E NP_001005743.1
NM_001005744.1 2213 Missense Mutation GAC,GAG D594E NP_001005744.1
NM_001005745.1 2213 Missense Mutation GAC,GAG D583E NP_001005745.1
NM_001320114.1 2213 Missense Mutation GAC,GAG D594E NP_001307043.1
NM_003744.5 2213 Missense Mutation GAC,GAG D631E NP_003735.3
Gene
PAPLN
Gene Name
papilin, proteoglycan like sulfated glycoprotein
There are no transcripts associated with this gene.

View Full Product Details