Product Details

SNP ID
rs111400036
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:79487113 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGCCTATTTGGATTAAAACTTCTT[C/T]CTTCACTGAGGAAAAAGCCTTCATC
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 2456 Missense Mutation GAA,GGA E662G NP_001116241.1
NM_181714.3 2456 Missense Mutation GAA,GGA E662G NP_859065.2
XM_005248665.4 2456 Missense Mutation GAA,GGA E662G XP_005248722.1
XM_011535504.1 2456 Missense Mutation GAA,GGA E662G XP_011533806.1

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