Transcript #00000664 (NM_024921.3, POF1B gene)

Transcript name premature ovarian failure, 1B
Gene name POF1B (premature ovarian failure, 1B)
Chromosome X
Transcript - NCBI ID NM_024921.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_079197.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

37 entries on 1 page. Showing entries 1 - 37.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.85C>A r.(?) p.(His29Asn)
-?/. - c.85C>A r.(?) p.(His29Asn)
-?/. - c.113A>C r.(?) p.(Gln38Pro)
-?/. - c.191A>G r.(?) p.(Gln64Arg)
+?/. - c.230C>A r.(?) p.(Pro77His)
-?/. - c.422T>C r.(?) p.(Val141Ala)
+/. - c.540+1G>T r.spl? p.?
-?/. - c.563G>T r.(?) p.(Cys188Phe)
?/. - c.716G>C r.(?) p.(Cys239Ser)
?/. - c.721C>T r.(?) p.(Gln241Ter)
?/. - c.796C>T r.(?) p.(Arg266Cys)
-?/. - c.885G>A r.(?) p.(Ser295=)
-?/. - c.885G>A r.(?) p.(Ser295=)
?/. - c.893T>C r.(?) p.(Ile298Thr)
-?/. - c.943C>T r.(?) p.(Arg315Cys)
-?/. - c.943C>T r.(?) p.(Arg315Cys)
-?/. - c.943C>T r.(?) p.(Arg315Cys)
?/. - c.986G>A r.(?) p.(Arg329Gln)
-/. - c.986G>A r.(?) p.(Arg329Gln)
?/. - c.986G>A r.(?) p.(Arg329Gln)
+/. - c.986G>A r.(?) p.(Arg329Gln)
?/. - c.986G>T r.(?) p.(Arg329Leu)
?/. - c.1044T>A r.(?) p.(Asp348Glu)
?/. - c.1045A>T r.(?) p.(Met349Leu)
?/. - c.1045A>T r.(?) p.(Met349Leu)
?/. - c.1045A>T r.(?) p.(Met349Leu)
-/. - c.1045A>T r.(?) p.(Met349Leu)
-?/. - c.1300C>A r.(?) p.(Gln434Lys)
-?/. - c.1300C>A r.(?) p.(Gln434Lys)
-/. - c.1371C>G r.(?) p.(Gly457=)
-?/. - c.1383G>A r.(=) p.(=)
-?/. - c.1458T>G r.(?) p.(His486Gln)
-?/. - c.1764+3A>G r.spl? p.?
?/. - c.*44T>G r.(=) p.(=)
?/. - c.*44T>G r.(=) p.(=)
-/. - c.*268T>G r.(=) p.(=)
-/. - c.*268T>G r.(=) p.(=)
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