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Basic information of NFASC :

Official Symbol of Gene NFASC
Species Homo sapiens
Entrez Gene ID 23114
Official Full Name neurofascin
Also known as NF; NRCAML; NEDCPMD
Gene Type protein coding
dbXrefs Ensembl:ENSG00000163531 MIM:609145; AllianceGenome:HGNC:29866
Map Location 1q32.1
Variation Type SNP
refSNP ID rs12368653

Sample information of multiple sclerosis:

Detected Sample grey matter tissue
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype SPMS
Population N/A
Sample Size 23 MS cases and 12 controls

Literature information of multiple sclerosis :

Pubmed ID 26785938
Year 2017
Title Axonal motor protein KIF5A and associated cargo deficits in multiple sclerosis lesional and normal-appearing white matter

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result The results showed a significant increase in dephosphorylated NF expression in patients heterozygous (AG/AG; p<0.05) or homozygous (AA/AA; p<0.05) for both the rs12368653 and rs703842 risk SNP, when compared to patients with no copy of either SNP.
Mechanism/Pathway N/A