Transcript #00000629 (NM_001013736.2, FAM47C gene)

Transcript name family with sequence similarity 47, member C
Gene name FAM47C (family with sequence similarity 47, member C)
Chromosome X
Transcript - NCBI ID NM_001013736.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001013758.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

47 entries on 1 page. Showing entries 1 - 47.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.111C>G r.(?) p.(Arg37=)
-?/. - c.269C>G r.(?) p.(Pro90Arg)
?/. - c.353T>A r.(?) p.(Val118Glu)
?/. - c.487G>A r.(?) p.(Gly163Ser)
?/. 1 c.524C>A r.(?) p.(Pro175His)
-?/. - c.541T>C r.(?) p.(Tyr181His)
-?/. 1 c.552G>A r.(?) p.(=)
-?/. - c.568C>T r.(?) p.(Pro190Ser)
?/. - c.634C>T r.(?) p.(Pro212Ser)
?/. - c.653G>A r.(?) p.(Gly218Glu)
-?/. - c.736C>T r.(?) p.(Leu246Phe)
?/. - c.999G>C r.(?) p.(Glu333Asp)
-?/. - c.1085G>A r.(?) p.(Arg362His)
?/. - c.1118C>T r.(?) p.(Ala373Val)
-?/. - c.1147C>T r.(?) p.(Pro383Ser)
-?/. - c.1157G>A r.(?) p.(Arg386His)
?/. - c.1157G>A r.(?) p.(Arg386His)
?/. - c.1274A>G r.(?) p.(His425Arg)
?/. - c.1327C>A r.(?) p.(Pro443Thr)
-?/. - c.1351C>T r.(?) p.(Arg451Cys)
-?/. 1 c.1406C>G r.(?) p.(Thr469Ser)
-?/. - c.1423T>C r.(?) p.(Cys475Arg)
?/. - c.1516C>G r.(?) p.(Arg506Gly)
-?/. - c.1531C>T r.(?) p.(Arg511Cys)
-?/. - c.1539G>C r.(?) p.(Glu513Asp)
-?/. - c.1624A>G r.(?) p.(Ser542Gly)
?/. 1 c.1644A>G r.(?) p.(=)
?/. 1 c.1644A>G r.(?) p.(=)
-?/. - c.1697G>A r.(?) p.(Arg566Gln)
-?/. - c.1726G>A r.(?) p.(Asp576Asn)
-?/. - c.1840C>G r.(?) p.(Arg614Gly)
-?/. - c.1856G>C r.(?) p.(Arg619Pro)
?/. - c.1869_1904dup r.(?) p.(Glu624_Pro635dup)
?/. - c.1960C>T r.(?) p.(Leu654Phe)
-?/. - c.2140C>A r.(?) p.(Leu714Ile)
-?/. - c.2146G>C r.(?) p.(Ala716Pro)
?/. - c.2414A>G r.(?) p.(Lys805Arg)
?/. - c.2648A>G r.(?) p.(Gln883Arg)
?/. - c.2716A>G r.(?) p.(Met906Val)
?/. 1 c.2771A>C r.(?) p.(Asn924Thr)
?/. 1 c.2771A>C r.(?) p.(Asn924Thr)
?/. 1 c.2771A>C r.(?) p.(Asn924Thr)
?/. - c.2879C>A r.(?) p.(Pro960His)
-?/. - c.2934A>G r.(?) p.(Gly978=)
-/. - c.2942C>T r.(?) p.(Ala981Val)
?/. 1 c.2942C>T r.(?) p.(Ala981Val)
?/. - c.2967G>C r.(?) p.(Lys989Asn)
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