Product Details

SNP ID
rs143582502
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:79487072 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGCTTTTACTGCTGGTTTATCGT[A/C]TGCATGTTTTAATCGGTGCCTATTT
Phenotype
MIM: 611408
Polymorphism
A/C, Transversion 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 2497 Missense Mutation GAC,TAC D676Y NP_001116241.1
NM_181714.3 2497 Missense Mutation GAC,TAC D676Y NP_859065.2
XM_005248665.4 2497 Missense Mutation GAC,TAC D676Y XP_005248722.1
XM_011535504.1 2497 Missense Mutation GAC,TAC D676Y XP_011533806.1

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