Transcript #00007452

Transcript name transcript variant 1
Gene name HEPH (hephaestin)
Chromosome X
Transcript - NCBI ID NM_138737.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_620074.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.116T>C r.(?) p.(Val39Ala)
?/? c.150A>C r.(?) p.(Lys50Asn)
?/? c.211T>C r.(?) p.(Trp71Arg)
?/? c.303C>G r.(?) p.(Ile101Met)
?/? c.305C>T r.(?) p.(Thr102Met)
?/? c.329+14C>A r.(=) p.(=)
?/? c.329+45A>T r.(=) p.(=)
?/? c.330-40G>T r.(=) p.(=)
?/? c.330-23T>C r.(=) p.(=)
?/? c.330-16T>C r.(=) p.(=)
?/? c.330-11T>C r.(=) p.(=)
?/? c.333G>A r.(=) p.(=)
?/? c.391A>G r.(?) p.(Ile131Val)
?/? c.407A>G r.(?) p.(Lys136Arg)
?/? c.521C>G r.(?) p.(Thr174Ser)
?/? c.524G>A r.(?) p.(Arg175His)
?/? c.575-48C>T r.(=) p.(=)
?/? c.575-28G>A r.(=) p.(=)
?/? c.670G>A r.(?) p.(Gly224Ser)
?/? c.684C>T r.(=) p.(=)
?/? c.787+7G>A r.(=) p.(=)
?/? c.788-38A>G r.(=) p.(=)
?/? c.929A>G r.(?) p.(Asp310Gly)
?/? c.970+3G>C r.spl? p.?
?/? c.970+11A>G r.(=) p.(=)
?/? c.970+15G>T r.(=) p.(=)
?/? c.970+16G>A r.(=) p.(=)
?/? c.970+42G>C r.(=) p.(=)
?/? c.970+45G>A r.(=) p.(=)
?/? c.970+62C>T r.(=) p.(=)
?/? c.971-26T>C r.(=) p.(=)
?/? c.1030G>A r.(?) p.(Val344Met)
?/? c.1033G>A r.(?) p.(Ala345Thr)
?/? c.1075A>G r.(?) p.(Thr359Ala)
?/? c.1107C>A r.(=) p.(=)
?/? c.1197T>C r.(=) p.(=)
?/? c.1203C>T r.(=) p.(=)
?/? c.1223G>A r.(?) p.(Arg408Gln)
?/? c.1225+36A>C r.(=) p.(=)
?/? c.1225+42G>A r.(=) p.(=)
?/? c.1226-17T>C r.(=) p.(=)
?/? c.1230C>A r.(=) p.(=)
?/? c.1262C>T r.(?) p.(Ser421Phe)
?/? c.1292G>A r.(?) p.(Gly431Asp)
?/? c.1301G>A r.(?) p.(Arg434Gln)
?/? c.1386G>A r.(=) p.(=)
?/? c.1394+8G>A r.(=) p.(=)
?/? c.1394+22C>T r.(=) p.(=)
?/? c.1394+28A>G r.(=) p.(=)
?/? c.1479G>A r.(=) p.(=)
?/? c.1505A>G r.(?) p.(Glu502Gly)
?/? c.1512T>C r.(=) p.(=)
?/? c.1531+6G>C r.(=) p.(=)
?/? c.1531+48T>C r.(=) p.(=)
?/? c.1532-32C>G r.(=) p.(=)
?/? c.1532-25A>G r.(=) p.(=)
?/? c.1583A>G r.(?) p.(Asn528Ser)
?/? c.1594C>T r.(?) p.(Gln532*)
?/? c.1663+10C>A r.(=) p.(=)
?/? c.1663+14G>T r.(=) p.(=)
?/? c.1664-37G>A r.(=) p.(=)
?/? c.1664-31C>T r.(=) p.(=)
?/? c.1664-8C>T r.(=) p.(=)
?/? c.1664-5T>C r.spl? p.?
?/? c.1664-3C>T r.spl? p.?
?/? c.1678G>C r.(?) p.(Gly560Arg)
?/? c.1693C>T r.(?) p.(Pro565Ser)
?/? c.1699G>A r.(?) p.(Glu567Lys)
?/? c.1701G>C r.(?) p.(Glu567Asp)
?/? c.1715G>A r.(?) p.(Arg572His)
?/? c.1728C>A r.(=) p.(=)
?/? c.1737C>T r.(=) p.(=)
?/? c.1795C>T r.(?) p.(Pro599Ser)
?/? c.1802G>A r.(?) p.(Arg601Lys)
?/? c.1830G>A r.(=) p.(=)
?/? c.1851T>C r.(=) p.(=)
?/? c.1858G>A r.(?) p.(Gly620Ser)
?/? c.1875+12G>T r.(=) p.(=)
?/? c.1896C>A r.(?) p.(Phe632Leu)
?/? c.1945G>A r.(?) p.(Ala649Thr)
?/? c.1960G>T r.(?) p.(Ala654Ser)
?/? c.2017C>T r.(?) p.(Arg673Trp)
?/? c.2026+23G>C r.(=) p.(=)
?/? c.2026+35G>A r.(=) p.(=)
?/? c.2027-48G>A r.(=) p.(=)
?/? c.2027-40G>A r.(=) p.(=)
?/? c.2052C>T r.(=) p.(=)
?/? c.2104G>A r.(?) p.(Gly702Ser)
?/? c.2136C>T r.(=) p.(=)
?/? c.2239+15A>G r.(=) p.(=)
?/? c.2239+44G>C r.(=) p.(=)
?/? c.2239+50G>T r.(=) p.(=)
?/? c.2251A>C r.(?) p.(Ile751Leu)
?/? c.2270G>A r.(?) p.(Ser757Asn)
?/? c.2274T>C r.(=) p.(=)
?/? c.2326C>A r.(?) p.(Gln776Lys)
?/? c.2339G>A r.(?) p.(Arg780His)
?/? c.2340C>T r.(=) p.(=)
?/? c.2378C>G r.(?) p.(Ala793Gly)
?/? c.2410C>T r.(?) p.(Arg804Trp)
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