Product Details

SNP ID

rs730378

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.8:1759881 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTTCTTTTTCGCCTCTCGCTCATT[A/C]TACATCCCTTTGAGGACACCGTCAT

Phenotype

MIM: 607837

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

CLN8 PubMed Links

Additional Information

For this assay, SNP(s) [rs111944156] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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		Intron			NP_061764.2
XM_005266021.3		Intron			XP_005266078.1
XM_005266022.1		Intron			XP_005266079.1
XM_005266023.1		Intron			XP_005266080.1
XM_011534745.1		Intron			XP_011533047.1
XM_011534746.2		Intron			XP_011533048.1
XM_011534747.1		Intron			XP_011533049.1

Gene

LOC101927752

Gene Name

uncharacterized LOC101927752

There are no transcripts associated with this gene.

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