Transcript #00001846

Transcript name ATP-binding cassette, sub-family A (ABC1), member 3
Gene name ABCA3 (ATP-binding cassette, sub-family A (ABC1), member 3)
Chromosome 16
Transcript - NCBI ID NM_001089.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001080.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

30 entries on 1 page. Showing entries 1 - 30.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.127C>T r.(?) p.(Arg43Cys)
?/. - c.160G>A r.(?) p.(Ala54Thr)
-?/. - c.393C>T r.(?) p.(Ala131=)
-?/. - c.447+11C>T r.(=) p.(=)
+?/. - c.604G>A r.(?) p.(Gly202Arg)
-?/. - c.681C>T r.(=) p.(=)
+/. - c.875A>T r.(?) p.(Glu292Val)
+?/. - c.875A>T r.(?) p.(Glu292Val)
+?/. - c.883C>T r.(?) p.(Arg295Cys)
?/. - c.1061C>T r.(?) p.(Ala354Val)
-?/. 12 c.1383G>A r.(=) p.(=)
?/. 12 c.1383G>A r.(?) p.(Val461=)
-?/. - c.1395G>A r.(?) p.(Leu465=)
-/. - c.1755C>G r.(?) p.(Pro585=)
-?/. - c.2268C>T r.(?) p.(Ala756=)
-?/. - c.2309C>T r.(?) p.(Pro770Leu)
?/. - c.2389A>C r.(?) p.(Ile797Leu)
-?/. - c.2460G>A r.(?) p.(Leu820=)
-?/. - c.3279G>A r.(?) p.(Glu1093=)
-?/. - c.3284G>A r.(?) p.(Arg1095Gln)
-?/. - c.3373G>A r.(?) p.(Val1125Met)
?/. - c.3784A>G r.(?) p.(Ser1262Gly)
-?/. - c.3784A>G r.(?) p.(Ser1262Gly)
+?/. - c.3799A>G r.(?) p.(Asn1267Asp)
-/. - c.4116= r.(=) p.(Ser1372=)
?/. - c.4165-8G>A r.(=) p.(=)
-?/. - c.4420C>T r.(?) p.(Arg1474Trp)
-?/. - c.4420C>T r.(?) p.(Arg1474Trp)
-?/. - c.4420C>T r.(?) p.(Arg1474Trp)
?/. - c.4871T>C r.(?) p.(Leu1624Pro)
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