Full data view for gene SIGMAR1

Information The variants shown are described using the NM_005866.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

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DB-ID     

Frequency     

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Technique     

Disease     

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Ethnic origin     

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Panel size     

Owner     
./. 3UTR c.*58T>C r.? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition - Unknown g. Kim HJ1, Kwon MJ2, Choi WJ3, Oh KW3, Oh SI3, Ki CS4, Kim SH5.(2014) SIGMAR1_000001 - ? ? ALS Kim HJ1, Kwon MJ2, Choi WJ3, Oh KW3, Oh SI3, Ki CS4, Kim SH5.(2014) Korean - 1 Y Yang
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