Product Details

SNP ID
rs148068933
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:55079837 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCTCCCGACCATGTCACGCTGCTC[A/G]ACCCGGCCTCCAAGGTGCCGGGGGG
Phenotype
MIM: 614987
Polymorphism
A/G, Transition 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_017729.3 369 Intron NP_060199.3
NM_133180.2 369 Missense Mutation AAC,GAC N89D NP_573441.2
XM_005259020.1 369 Missense Mutation AAC,GAC N89D XP_005259077.1
XM_011527050.1 369 Intron XP_011525352.1
XM_011527051.2 369 Missense Mutation AAC,GAC N89D XP_011525353.1
XM_011527052.2 369 Missense Mutation AAC,GAC N89D XP_011525354.1

View Full Product Details