Product Details

SNP ID
rs1468101
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.13:76995234 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGACCTCCTGGGACACTTGGTAAG[A/G]ATGCATCTTGGTCTTATAACTTTGG
Phenotype
MIM: 608102 MIM: 605653
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CLN5 PubMed Links

Gene Details

Gene
CLN5
Gene Name
ceroid-lipofuscinosis, neuronal 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006493.2 Intron NP_006484.1
XM_011534917.2 Intron XP_011533219.1
Gene
FBXL3
Gene Name
F-box and leucine rich repeat protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012158.2 Intron NP_036290.1
XM_005266336.1 Intron XP_005266393.1
XM_005266337.2 Intron XP_005266394.1
XM_017020538.1 Intron XP_016876027.1

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