Transcript #00009965

Transcript name transcript variant 2
Gene name MAP7D3 (MAP7 domain containing 3)
Chromosome X
Transcript - NCBI ID NM_001173516.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001166987.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

126 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.31G>A r.(?) p.(Glu11Lys)
?/? c.46A>G r.(?) p.(Arg16Gly)
?/? c.61G>A r.(?) p.(Val21Met)
?/? c.116-40G>C r.(=) p.(=)
?/? c.116-29A>G r.(=) p.(=)
?/? c.121G>A r.(?) p.(Asp41Asn)
?/? c.136A>T r.(?) p.(Lys46*)
?/? c.200-34C>T r.(=) p.(=)
?/? c.204_205del r.(?) p.(Asn68Lysfs*7)
?/? c.293G>A r.(?) p.(Arg98Gln)
?/? c.344A>G r.(?) p.(Gln115Arg)
?/? c.363+14C>T r.(=) p.(=)
?/? c.363+28G>C r.(=) p.(=)
?/? c.363+44G>A r.(=) p.(=)
?/? c.364-16C>T r.(=) p.(=)
?/? c.364-2A>G r.spl? p.?
?/? c.409C>G r.(?) p.(Leu137Val)
?/? c.418G>A r.(?) p.(Asp140Asn)
?/? c.457A>G r.(?) p.(Met153Val)
?/? c.461C>T r.(?) p.(Ala154Val)
?/? c.481+37T>C r.(=) p.(=)
?/? c.482-31T>C r.(=) p.(=)
?/? c.482-29A>G r.(=) p.(=)
?/? c.491G>A r.(?) p.(Arg164Gln)
?/? c.576C>T r.(=) p.(=)
?/? c.587-2A>G r.spl? p.?
?/? c.590A>G r.(?) p.(Lys197Arg)
?/? c.679_680insC r.(?) p.(Arg227Profs*19)
?/? c.682+13T>A r.(=) p.(=)
?/? c.682+22A>G r.(=) p.(=)
?/? c.683-41_683-34del r.(=) p.(=)
?/? c.683-26G>T r.(=) p.(=)
?/? c.683-3C>T r.spl? p.?
?/? c.711G>A r.(=) p.(=)
?/? c.730C>T r.(?) p.(Arg244Cys)
?/? c.737G>C r.(?) p.(Cys246Ser)
?/? c.758C>T r.(?) p.(Ala253Val)
?/? c.813G>A r.(=) p.(=)
?/? c.818C>T r.(?) p.(Pro273Leu)
?/? c.866C>A r.(?) p.(Pro289His)
?/? c.909G>A r.(=) p.(=)
?/? c.919G>A r.(?) p.(Ala307Thr)
?/? c.950C>T r.(?) p.(Thr317Met)
?/? c.951G>A r.(=) p.(=)
?/? c.957A>G r.(=) p.(=)
?/? c.1024G>A r.(?) p.(Ala342Thr)
?/? c.1103C>T r.(?) p.(Pro368Leu)
?/? c.1109C>T r.(?) p.(Ala370Val)
?/? c.1119A>G r.(=) p.(=)
?/? c.1127C>T r.(?) p.(Pro376Leu)
?/? c.1132G>A r.(?) p.(Val378Met)
?/? c.1138C>G r.(?) p.(Leu380Val)
?/? c.1161C>T r.(=) p.(=)
?/? c.1212A>G r.(=) p.(=)
?/? c.1215A>G r.(=) p.(=)
?/? c.1225A>G r.(?) p.(Lys409Glu)
?/? c.1226A>G r.(?) p.(Lys409Arg)
?/? c.1234G>A r.(?) p.(Val412Met)
?/? c.1242G>A r.(=) p.(=)
?/? c.1274A>G r.(?) p.(Glu425Gly)
?/? c.1295C>T r.(?) p.(Pro432Leu)
?/? c.1302A>G r.(=) p.(=)
?/? c.1344G>A r.(=) p.(=)
?/? c.1359+25A>C r.(=) p.(=)
?/? c.1360-41T>C r.(=) p.(=)
?/? c.1360-31G>A r.(=) p.(=)
?/? c.1362A>G r.(=) p.(=)
?/? c.1382C>T r.(?) p.(Ala461Val)
?/? c.1406G>A r.(?) p.(Arg469His)
?/? c.1436G>T r.(?) p.(Trp479Leu)
?/? c.1451A>C r.(?) p.(Glu484Ala)
?/? c.1470G>A r.(=) p.(=)
?/? c.1487+1G>C r.spl? p.?
?/? c.1487+8G>T r.(=) p.(=)
?/? c.1487+16G>A r.(=) p.(=)
?/? c.1487+19A>G r.(=) p.(=)
?/? c.1487+34C>T r.(=) p.(=)
?/? c.1488-19G>A r.(=) p.(=)
?/? c.1488-12_1488-9del r.(=) p.(=)
?/? c.1505A>G r.(?) p.(Asn502Ser)
?/? c.1532T>C r.(?) p.(Ile511Thr)
?/? c.1671G>T r.(?) p.(Leu557Phe)
?/? c.1673G>A r.(?) p.(Ser558Asn)
?/? c.1696+12C>G r.(=) p.(=)
?/? c.1696+51G>T r.(=) p.(=)
?/? c.1765C>T r.(?) p.(Arg589Cys)
?/? c.1824G>T r.(?) p.(Met608Ile)
?/? c.1828C>T r.(?) p.(Gln610*)
?/? c.1829A>G r.(?) p.(Gln610Arg)
?/? c.1832+17C>T r.(=) p.(=)
?/? c.1833-32A>G r.(=) p.(=)
?/? c.1834G>C r.(?) p.(Val612Leu)
?/? c.1884A>G r.(=) p.(=)
?/? c.1924G>C r.(?) p.(Glu642Gln)
?/? c.1981-39A>G r.(=) p.(=)
?/? c.1981-22T>C r.(=) p.(=)
?/? c.1981-3T>A r.spl? p.?
?/? c.2024G>T r.(?) p.(Arg675Leu)
?/? c.2027A>G r.(?) p.(Lys676Arg)
?/? c.2037C>T r.(=) p.(=)
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