Product Details

SNP ID
rs117262040
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:1755824 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCATCTTCAGAATGAGTCAGCTCC[A/G]CTTGTCCCAGGCAGGAGACTCACGA
Phenotype
MIM: 607837
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CLN8 PubMed Links

Gene Details

Gene
CLN8
Gene Name
ceroid-lipofuscinosis, neuronal 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018941.3 47 Intron NP_061764.2
XM_005266021.3 47 Intron XP_005266078.1
XM_005266022.1 47 UTR 5 XP_005266079.1
XM_005266023.1 47 Intron XP_005266080.1
XM_011534745.1 47 Intron XP_011533047.1
XM_011534746.2 47 Intron XP_011533048.1
XM_011534747.1 47 Intron XP_011533049.1
Gene
LOC101927752
Gene Name
uncharacterized LOC101927752
There are no transcripts associated with this gene.

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