Full data view for gene ITPR1

Information The variants shown are described using the NM_001099952.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

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Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 37 c.4657G>A r.(?) p.(Val1553Met) Unknown g.4747877G>A Huang L et al. (2012) ITPR1_000001 - ? ? SCA Huang L et al. (2012) - - 1 XY Liu
./. 37 c.4657G>A r.(?) p.(Val1553Met) Unknown g.4747877G>A Shadrina MI et al. (2016) ITPR1_000001 - ? ? SCA Shadrina MI et al. (2016) Russian - 1 XY Liu
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