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Basic information of PTPRC :

Official Symbol of Gene PTPRC
Species Homo sapiens
Entrez Gene ID 5788
Official Full Name protein tyrosine phosphatase receptor type C
Also known as LCA; LY5; B220; CD45; L-CA; T200; CD45R; GP180; IMD105
Gene Type protein coding
dbXrefs Ensembl:ENSG00000081237 MIM:151460; AllianceGenome:HGNC:9666
Map Location 1q31.3-q32.1
Variation Type mutation
refSNP ID C->G mutation in position 77 of exon 4

Sample information of multiple sclerosis:

Detected Sample N/A
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype N/A
Population Italian
Sample Size MS patients (n=194),Healthy donors (n=222)

Literature information of multiple sclerosis :

Pubmed ID 12147336
Year 2002
Title Protein tyrosine phosphatase receptor-type C exon 4 gene mutation distribution in an Italian multiple sclerosis population

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result This finding suggests a role, in at least a group of patients, for the PTPRC mutation in genetic susceptibility to MS.
Mechanism/Pathway N/A