Full data view for gene PHYH

Information The variants shown are described using the NM_006214.3 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)     

Reference     

DB-ID     

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Technique     

Disease     

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Ethnic origin     

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Owner     
./. 7 c.824G>A r.(?) p.(Arg275Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.13325694C>T Mihalik SJ1, Morrell JC, Kim D, Sacksteder KA, Watkins PA, Gould SJ.(1997) PHYH_000013 - ? ? HMSN Mihalik SJ1, Morrell JC, Kim D, Sacksteder KA, Watkins PA, Gould SJ.(1997) - - 1 Y Yang
./. 7 c.824G>A r.(?) p.(Arg275Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.13325694C>T Jansen GA1, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ.(2000) PHYH_000013 - ? ? HMSN Jansen GA1, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ.(2000) - - 1 Y Yang
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