Product Details

SNP ID
rs201364329
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:55080773 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGCCTGACGGTGTGATTGGCAGG[C/G]GGAGCTGATCCGAGAGGACATCCAG
Phenotype
MIM: 614987
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
EPS8L1 PubMed Links

Gene Details

Gene
EPS8L1
Gene Name
EPS8 like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017729.3 535 Missense Mutation GCG,GGG A17G NP_060199.3
NM_133180.2 535 Missense Mutation GCG,GGG A144G NP_573441.2
XM_005259020.1 535 Missense Mutation GCG,GGG A144G XP_005259077.1
XM_011527050.1 535 Missense Mutation GCG,GGG A17G XP_011525352.1
XM_011527051.2 535 Missense Mutation GCG,GGG A144G XP_011525353.1
XM_011527052.2 535 Missense Mutation GCG,GGG A144G XP_011525354.1

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