Product Details

SNP ID
rs142483011
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:55079009 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCTCCCCTGGCAGAGCAGAGGAA[G/T]CGTTACTCCACAGTTGTTATGGCTG
Phenotype
MIM: 614987
Polymorphism
G/T, 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_017729.3 173 Intron NP_060199.3
NM_133180.2 173 Missense Mutation AAG,AAT K23N NP_573441.2
XM_005259020.1 173 Missense Mutation AAG,AAT K23N XP_005259077.1
XM_011527050.1 173 Intron XP_011525352.1
XM_011527051.2 173 Missense Mutation AAG,AAT K23N XP_011525353.1
XM_011527052.2 173 Missense Mutation AAG,AAT K23N XP_011525354.1
Gene
RDH13
Gene Name
retinol dehydrogenase 13 (all-trans/9-cis)
There are no transcripts associated with this gene.

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