Transcript #00017246

Transcript name transcript variant 1
Gene name SLC7A3 (solute carrier family 7 (cationic amino acid transporter, y+ system), member 3)
Chromosome X
Transcript - NCBI ID NM_032803.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_116192.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

82 entries on 1 page. Showing entries 1 - 82.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-25-16T>C r.(=) p.(=)
?/? c.-25-15C>G r.(=) p.(=)
?/? c.-25-11T>C r.(=) p.(=)
?/? c.5C>T r.(?) p.(Pro2Leu)
?/? c.49C>T r.(?) p.(Arg17Cys)
?/? c.77C>T r.(?) p.(Thr26Ile)
?/? c.202A>G r.(?) p.(Ile68Val)
?/? c.277C>T r.(?) p.(Arg93Cys)
?/? c.278G>A r.(?) p.(Arg93His)
?/? c.357C>T r.(=) p.(=)
?/? c.370+10G>A r.(=) p.(=)
?/? c.370+13G>C r.(=) p.(=)
?/? c.370+24G>A r.(=) p.(=)
?/? c.370+33C>T r.(=) p.(=)
?/? c.454A>G r.(?) p.(Ile152Val)
?/? c.461T>C r.(?) p.(Leu154Pro)
?/? c.498C>T r.(=) p.(=)
?/? c.514G>T r.(?) p.(Val172Leu)
?/? c.529+23A>T r.(=) p.(=)
?/? c.539C>T r.(?) p.(Ala180Val)
?/? c.557C>T r.(?) p.(Ser186Leu)
?/? c.575T>C r.(?) p.(Val192Ala)
?/? c.585C>T r.(=) p.(=)
?/? c.606G>A r.(=) p.(=)
?/? c.618C>T r.(=) p.(=)
?/? c.660A>C r.(=) p.(=)
?/? c.698A>T r.(?) p.(Asp233Val)
?/? c.708-35C>T r.(=) p.(=)
?/? c.713G>C r.(?) p.(Gly238Ala)
?/? c.744C>T r.(=) p.(=)
?/? c.820+29G>T r.(=) p.(=)
?/? c.820+41T>C r.(=) p.(=)
?/? c.820+46_820+47insTG r.(=) p.(=)
?/? c.821-47G>A r.(=) p.(=)
?/? c.821-46G>A r.(=) p.(=)
?/? c.845G>A r.(?) p.(Arg282His)
?/? c.852C>T r.(=) p.(=)
?/? c.855G>A r.(=) p.(=)
?/? c.936C>T r.(=) p.(=)
?/? c.958C>T r.(?) p.(Pro320Ser)
?/? c.963G>A r.(=) p.(=)
?/? c.1005T>C r.(=) p.(=)
?/? c.1032T>C r.(=) p.(=)
?/? c.1056C>T r.(=) p.(=)
?/? c.1074G>A r.(=) p.(=)
?/? c.1107G>A r.(=) p.(=)
?/? c.1133C>G r.(?) p.(Thr378Ser)
?/? c.1134C>T r.(=) p.(=)
?/? c.1141C>T r.(?) p.(Arg381Cys)
?/? c.1142G>A r.(?) p.(Arg381His)
?/? c.1150A>G r.(?) p.(Ile384Val)
?/? c.1183+29G>T r.(=) p.(=)
?/? c.1183+36C>T r.(=) p.(=)
?/? c.1184-47T>G r.(=) p.(=)
?/? c.1184-30C>A r.(=) p.(=)
?/? c.1185A>G r.(=) p.(=)
?/? c.1235T>C r.(?) p.(Ile412Thr)
?/? c.1259T>A r.(?) p.(Leu420Gln)
?/? c.1286+35T>C r.(=) p.(=)
?/? c.1453+24G>A r.(=) p.(=)
?/? c.1453+41G>A r.(=) p.(=)
?/? c.1454-24T>C r.(=) p.(=)
?/? c.1522C>G r.(?) p.(Leu508Val)
?/? c.1570A>G r.(?) p.(Ile524Val)
?/? c.1599T>C r.(=) p.(=)
?/? c.1620+16C>A r.(=) p.(=)
?/? c.1621-10T>G r.(=) p.(=)
?/? c.1621-6T>C r.(=) p.(=)
?/? c.1705C>T r.(?) p.(Arg569*)
?/? c.1729+13T>C r.(=) p.(=)
?/? c.1729+20G>A r.(=) p.(=)
?/? c.1730-52del r.(=) p.(=)
?/? c.1746C>T r.(=) p.(=)
?/? c.1761G>A r.(=) p.(=)
?/? c.1766G>C r.(?) p.(Ser589Thr)
?/? c.1788C>G r.(?) p.(Asn596Lys)
?/? c.1798C>T r.(?) p.(Arg600Cys)
?/? c.1799G>A r.(?) p.(Arg600His)
?/? c.1833C>T r.(=) p.(=)
?/? c.1838C>G r.(?) p.(Thr613Ser)
?/? c.*5G>A r.(=) p.(=)
?/? c.*17T>A r.(=) p.(=)
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