Product Details

SNP ID
rs144393297
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50536634 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGAGGCAGAAATCAAGGTGCGCGA[A/G]GCCACCAGCAATGACCCCTGGGGCC
Phenotype
MIM: 607264 MIM: 609835
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EPN3 PubMed Links

Gene Details

Gene
EPN3
Gene Name
epsin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017957.2 513 Silent Mutation GAA,GAG E26E NP_060427.2
Gene
LOC105371824
Gene Name
uncharacterized LOC105371824
There are no transcripts associated with this gene.

Gene
MYCBPAP
Gene Name
MYCBP associated protein
There are no transcripts associated with this gene.

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