Product Details

SNP ID
rs148283968
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:35150089 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCGGACATCAAGGCTCTGTATCGG[C/T]GATGCCAGGCACTGGAGCACCTGGG
Phenotype
MIM: 611220
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NLE1 PubMed Links

Gene Details

Gene
NLE1
Gene Name
notchless homolog 1
There are no transcripts associated with this gene.

Gene
UNC45B
Gene Name
unc-45 myosin chaperone B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033576.1 247 Nonsense Mutation CGA,TGA R83* NP_001028748.1
NM_001267052.1 247 Nonsense Mutation CGA,TGA R83* NP_001253981.1
NM_001308281.1 247 Nonsense Mutation CGA,TGA R83* NP_001295210.1
NM_173167.3 247 Nonsense Mutation CGA,TGA R83* NP_775259.1
XM_017024234.1 247 Nonsense Mutation CGA,TGA R83* XP_016879723.1

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