Product Details

SNP ID
rs116886115
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:39446660 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGTAGGAAGAATAGACTTTTTCCC[A/G]TATCTTGAGTGCCATTTGTCCTTAT
Phenotype
MIM: 602230
Polymorphism
A/G, 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 Intron NP_689718.1
XM_005260926.1 Intron XP_005260983.1
XM_006723967.1 Intron XP_006724030.1
XM_006723972.1 Intron XP_006724035.1
XM_006723973.1 Intron XP_006724036.1
XM_011529458.1 Intron XP_011527760.1
XM_011529459.1 Intron XP_011527761.1
XM_011529460.1 Intron XP_011527762.1
XM_011529461.1 Intron XP_011527763.1
XM_011529462.1 Intron XP_011527764.1
XM_011529463.2 Intron XP_011527765.1
XM_011529464.1 Intron XP_011527766.1
XM_011529465.1 Intron XP_011527767.1
XM_011529466.1 Intron XP_011527768.1
XM_011529467.1 Intron XP_011527769.1
XM_011529468.1 Intron XP_011527770.1
XM_011529469.2 Intron XP_011527771.1
XM_011529470.1 Intron XP_011527772.1
XM_011529471.1 Intron XP_011527773.1
XM_017028274.1 Intron XP_016883763.1
XM_017028275.1 Intron XP_016883764.1
XM_017028276.1 Intron XP_016883765.1
XM_017028277.1 Intron XP_016883766.1
XM_017028278.1 Intron XP_016883767.1
Gene
MIR6508
Gene Name
microRNA 6508
There are no transcripts associated with this gene.

Gene
SH3BGR
Gene Name
SH3 domain binding glutamate rich protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001713.1 Intron NP_001001713.1
NM_001317740.1 Intron NP_001304669.1
NM_001317741.1 Intron NP_001304670.1
NM_001317742.1 Intron NP_001304671.1
NM_007341.2 Intron NP_031367.1
Gene
WRB-SH3BGR
Gene Name
WRB-SH3BGR readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317744.1 Intron NP_001304673.1

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