Transcript #00025581 (NM_004299.4, ABCB7 gene)

Transcript name transcript variant 1
Gene name ABCB7 (ATP-binding cassette, sub-family B (MDR/TAP), member 7)
Chromosome X
Transcript - NCBI ID NM_004299.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_004290.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

38 entries on 1 page. Showing entries 1 - 38.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.73G>C r.(?) p.(Ala25Pro)
-?/. - c.121T>C r.(?) p.(Trp41Arg)
-?/. - c.151A>G r.(?) p.(Thr51Ala)
-?/. - c.168+69C>G r.(=) p.(=)
-?/. - c.168+69C>G r.(=) p.(=)
-?/. - c.204G>C r.(?) p.(Gln68His)
-?/. - c.214A>G r.(?) p.(Lys72Glu)
-?/. - c.214A>G r.(?) p.(Lys72Glu)
-?/. - c.249+1G>A r.spl? p.?
-?/. - c.249+1G>A r.spl? p.?
-/. - c.315C>T r.(?) p.(Leu105=)
-?/. - c.336+126dup r.(=) p.(=)
-?/. - c.336+126dup r.(=) p.(=)
-?/. - c.336+126dup r.(=) p.(=)
-?/. - c.336+126dup r.(=) p.(=)
-?/. - c.336+126_336+127dup r.(=) p.(=)
-/. - c.356G>A r.(?) p.(Arg119Gln)
?/. 7 c.941G>A r.(?) p.(Arg314Gln)
-?/. - c.941G>A r.(?) p.(Arg314Gln)
-?/. - c.941G>A r.(?) p.(Arg314Gln)
-?/. - c.948-7C>T r.(=) p.(=)
-?/. - c.1177A>G r.(?) p.(Ile393Val)
?/. - c.1177A>G r.(?) p.(Ile393Val)
+/. 9 c.1203T>G r.(?) p.(Ile401Met)
+/. 9 c.1203T>G r.(?) p.(Ile401Met)
+/. 9 c.1203T>G r.(?) p.Ile401Met
+/. 10 c.1234G>C r.1234g>c p.Val412Leu
+/. 10 c.1234G>C r.(?) p.(Val412Leu)
+/. 10 c.1300G>A r.(?) p.(Glu434Lys)
+/. 10 c.1300G>A r.(?) p.(Glu434Lys)
+?/. 10 c.1300G>A r.(?) p.Glu434Lys
?/. 10 c.1323T>C r.(?) p.(Asp441=)
-?/. - c.1323T>C r.(?) p.(Asp441=)
-?/. - c.1386T>C r.(?) p.(Ser462=)
?/. - c.1592A>G r.(?) p.(Tyr531Cys)
?/. - c.1767T>G r.(?) p.(His589Gln)
-?/. - c.1938+9T>C r.(=) p.(=)
?/. - c.2228A>G r.(?) p.(Asn743Ser)
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