Product Details

SNP ID
rs113863641
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:79487304 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTCCATCAAATTAGCTTTTTTCTC[C/T]TTTCTTGTAATTAAATCTACACCAT
Phenotype
MIM: 611408
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LCA5 PubMed Links

Gene Details

Gene
LCA5
Gene Name
LCA5, lebercilin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001122769.2 2265 Silent Mutation AAA,AAG K598K NP_001116241.1
NM_181714.3 2265 Silent Mutation AAA,AAG K598K NP_859065.2
XM_005248665.4 2265 Silent Mutation AAA,AAG K598K XP_005248722.1
XM_011535504.1 2265 Silent Mutation AAA,AAG K598K XP_011533806.1

View Full Product Details