Product Details

SNP ID
rs143848078
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:710484 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACGAGACCTCGCAGTACCACGTC[A/C]AGGTAAGGCCCCGCCCCCAGGTAGG
Phenotype
MIM: 614988
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
EPS8L2 PubMed Links

Gene Details

Gene
EPS8L2
Gene Name
EPS8 like 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022772.3 410 Missense Mutation AAG,CAG K55Q NP_073609.2
XM_017018130.1 410 Missense Mutation AAG,CAG K55Q XP_016873619.1
XM_017018131.1 410 Missense Mutation AAG,CAG K55Q XP_016873620.1
XM_017018132.1 410 Missense Mutation AAG,CAG K55Q XP_016873621.1
Gene
TMEM80
Gene Name
transmembrane protein 80
There are no transcripts associated with this gene.

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