Product Details

SNP ID

rs28631502

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.13:76992777 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTGCCCTCAAAAGTCGCGCATCC[C/G]GGGAATCCCCGTCTCCTGCAGTCCT

Phenotype

MIM: 608102 MIM: 605653

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

CLN5 PubMed Links

Additional Information

For this assay, SNP(s) [rs139193170] 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

CLN5

Gene Name

ceroid-lipofuscinosis, neuronal 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006493.2	1173	Intron			NP_006484.1
XM_011534917.2	1173	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	1173	Intron			NP_036290.1
XM_005266336.1	1173	Intron			XP_005266393.1
XM_005266337.2	1173	Intron			XP_005266394.1
XM_017020538.1	1173	UTR 3			XP_016876027.1

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