Product Details

SNP ID
rs17857376
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:79487230 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTACTGGAAGCCACAGAATTTGGG[C/T]CACTGCTTTTGGAGGAAATGGTGCT
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 2339 Missense Mutation GAC,GGC D623G NP_001116241.1
NM_181714.3 2339 Missense Mutation GAC,GGC D623G NP_859065.2
XM_005248665.4 2339 Missense Mutation GAC,GGC D623G XP_005248722.1
XM_011535504.1 2339 Missense Mutation GAC,GGC D623G XP_011533806.1

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