Full data view for gene SH3TC2

Information The variants shown are described using the NM_024577.3 transcript reference sequence.

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

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Technique     

Disease     

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Ethnic origin     

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Owner     
./. 14 c.3325C>T r.(?) p.(Arg1109*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.148389835G>A Gooding R1, Colomer J, King R, Angelicheva D, Marns L, Parman Y, Chandler D, Bertranpetit J, Kalaydjieva L.(2005) SH3TC2_000004 - ? ? HMSN Gooding R1, Colomer J, King R, Angelicheva D, Marns L, Parman Y, Chandler D, Bertranpetit J, Kalaydjieva L.(2005) - - 1 Y Yang
./. 14 c.3325C>T r.(?) p.(Arg1109*) - - Unknown g.148389835G>A Sevilla T et al. (2013) SH3TC2_000004 - ? ? HMSN Sevilla T et al. (2013) - - 1 XY Liu
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