Transcript #00016244

Transcript name retinitis pigmentosa 2 (X-linked recessive)
Gene name RP2 (retinitis pigmentosa 2 (X-linked recessive))
Chromosome X
Transcript - NCBI ID NM_006915.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_008846.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

40 entries on 1 page. Showing entries 1 - 40.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-44G>C r.(=) p.(=)
?/? c.-19A>G r.(=) p.(=)
?/? c.51C>G r.(=) p.(=)
?/? c.67C>T r.(?) p.(Arg23Trp)
?/? c.88G>C r.(?) p.(Asp30His)
?/? c.102+13G>C r.(=) p.(=)
?/? c.102+19C>A r.(=) p.(=)
?/? c.102+46C>T r.(=) p.(=)
?/? c.121A>G r.(?) p.(Met41Val)
?/? c.123G>A r.(?) p.(Met41Ile)
?/? c.168G>A r.(=) p.(=)
?/? c.196G>A r.(?) p.(Asp66Asn)
?/? c.233C>G r.(?) p.(Ser78Cys)
?/? c.259A>G r.(?) p.(Thr87Ala)
?/? c.260C>T r.(?) p.(Thr87Ile)
?/? c.285C>G r.(=) p.(=)
?/? c.323G>C r.(?) p.(Cys108Ser)
?/? c.396C>G r.(=) p.(=)
?/? c.438A>G r.(=) p.(=)
?/? c.481G>T r.(?) p.(Asp161Tyr)
?/? c.506A>G r.(?) p.(Asn169Ser)
?/? c.601A>G r.(?) p.(Ile201Val)
?/? c.606T>C r.(=) p.(=)
?/? c.613G>A r.(?) p.(Glu205Lys)
?/? c.654A>C r.(?) p.(Arg218Ser)
?/? c.696C>T r.(=) p.(=)
?/? c.697G>A r.(?) p.(Asp233Asn)
?/? c.769-38G>A r.(=) p.(=)
?/? c.807A>G r.(=) p.(=)
?/? c.844C>T r.(?) p.(Arg282Trp)
?/? c.884-22T>C r.(=) p.(=)
?/? c.898T>G r.(?) p.(Leu300Val)
?/? c.969+4C>G r.spl? p.?
?/? c.969+18C>G r.(=) p.(=)
?/? c.970-36T>C r.(=) p.(=)
?/? c.970-30_970-29del r.(=) p.(=)
?/? c.970-29del r.(=) p.(=)
?/? c.970-29dup r.(=) p.(=)
?/? c.1001C>A r.(?) p.(Ser334Tyr)
?/? c.*20A>G r.(=) p.(=)
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