Product Details

SNP ID
rs188587197
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:73276777 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCATCTACACCATTGAAAGCTGCA[A/G]AACCGTTGAGGTGCTGAGCAGGAGG
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 2044 Missense Mutation TCT,TTT S586F NP_001005743.1
NM_001005744.1 2044 Missense Mutation TCT,TTT S538F NP_001005744.1
NM_001005745.1 2044 Missense Mutation TCT,TTT S527F NP_001005745.1
NM_001320114.1 2044 Missense Mutation TCT,TTT S538F NP_001307043.1
NM_003744.5 2044 Missense Mutation TCT,TTT S575F NP_003735.3
Gene
PAPLN
Gene Name
papilin, proteoglycan like sulfated glycoprotein
There are no transcripts associated with this gene.

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