Product Details

SNP ID
rs180865456
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.21:39406056 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCTTTTGCAACACCAGGACTTGA[C/T]TGGTCAGTTTTCAAGACATAGCCTG
Phenotype
MIM: 602915
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
LCA5L PubMed Links

Gene Details

Gene
LCA5L
Gene Name
LCA5L, lebercilin like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152505.3 1824 Silent Mutation CAA,CAG Q613Q NP_689718.1
XM_005260926.1 1824 Silent Mutation CAA,CAG Q613Q XP_005260983.1
XM_006723967.1 1824 Silent Mutation CAA,CAG Q613Q XP_006724030.1
XM_006723972.1 1824 Silent Mutation CAA,CAG Q483Q XP_006724035.1
XM_006723973.1 1824 Silent Mutation CAA,CAG Q483Q XP_006724036.1
XM_011529458.1 1824 Silent Mutation CAA,CAG Q662Q XP_011527760.1
XM_011529459.1 1824 Silent Mutation CAA,CAG Q662Q XP_011527761.1
XM_011529460.1 1824 Silent Mutation CAA,CAG Q662Q XP_011527762.1
XM_011529461.1 1824 Silent Mutation CAA,CAG Q662Q XP_011527763.1
XM_011529462.1 1824 Silent Mutation CAA,CAG Q662Q XP_011527764.1
XM_011529463.2 1824 Silent Mutation CAA,CAG Q662Q XP_011527765.1
XM_011529464.1 1824 Silent Mutation CAA,CAG Q662Q XP_011527766.1
XM_011529465.1 1824 Silent Mutation CAA,CAG Q662Q XP_011527767.1
XM_011529466.1 1824 Silent Mutation CAA,CAG Q662Q XP_011527768.1
XM_011529467.1 1824 Silent Mutation CAA,CAG Q662Q XP_011527769.1
XM_011529468.1 1824 Silent Mutation CAA,CAG Q662Q XP_011527770.1
XM_011529469.2 1824 Silent Mutation CAA,CAG Q662Q XP_011527771.1
XM_011529470.1 1824 Silent Mutation CAA,CAG Q662Q XP_011527772.1
XM_011529471.1 1824 Silent Mutation CAA,CAG Q616Q XP_011527773.1
XM_017028274.1 1824 Silent Mutation CAA,CAG Q483Q XP_016883763.1
XM_017028275.1 1824 Silent Mutation CAA,CAG Q483Q XP_016883764.1
XM_017028276.1 1824 Silent Mutation CAA,CAG Q483Q XP_016883765.1
XM_017028277.1 1824 Silent Mutation CAA,CAG Q483Q XP_016883766.1
XM_017028278.1 1824 Silent Mutation CAA,CAG Q483Q XP_016883767.1
Gene
WRB
Gene Name
tryptophan rich basic protein
There are no transcripts associated with this gene.

Gene
WRB-SH3BGR
Gene Name
WRB-SH3BGR readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317744.1 1824 Intron NP_001304673.1

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