Product Details

SNP ID
rs145525278
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:40669931 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGTGGTGGCCCTGGTGCTGGCG[C/T]TCCAGCACTGGCAAAAGATGAACTG
Phenotype
MIM: 604018
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NUMBL PubMed Links

Gene Details

Gene
NUMBL
Gene Name
NUMB like, endocytic adaptor protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001289979.1 1216 Missense Mutation ACG,GCG T335A NP_001276908.1
NM_001289980.1 1216 Missense Mutation ACG,GCG T335A NP_001276909.1
NM_004756.4 1216 Missense Mutation ACG,GCG T376A NP_004747.1

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