Transcript #00025489 (NM_005087.3, FXR1 gene)

Transcript name transcript variant 1
Gene name FXR1 (FMR1 autosomal homolog 1)
Chromosome 3
Transcript - NCBI ID NM_005087.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005078.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

9 entries on 1 page. Showing entries 1 - 9.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.1242del r.(?) p.(Glu414Aspfs*6)
?/. - c.1490A>C r.(?) p.(His497Pro)
+/. - c.1603+790_1603+793del r.(=) p.(=)
+/. - c.1772T>A r.[(1772u>a),spl] p.[(Ile591Asn),?]
+/. - c.1772T>A r.[(1772u>a),spl] p.[(Ile591Asn),?]
+/. - c.1772T>A r.[(1772u>a),spl] p.[(Ile591Asn),?]
?/. - c.*8362G>T r.(=) p.(=)
-?/. - c.*8414T>G r.(=) p.(=)
?/. - c.*9630_*9633del r.(=) p.(=)
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