Product Details

SNP ID
rs2292108
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:79486285 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GAGAACAAGGAGAGGAATTACACTG[C/T]AGCCAAGCTTCTGCGGGCTATGACA
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 3284 UTR 3 NP_001116241.1
NM_181714.3 3284 UTR 3 NP_859065.2
XM_005248665.4 3284 UTR 3 XP_005248722.1
XM_011535504.1 3284 UTR 3 XP_011533806.1

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