Transcript #00023973 (NM_001270974.1, HYDIN gene)

Transcript name transcript variant 1
Gene name HYDIN (HYDIN, axonemal central pair apparatus protein)
Chromosome 16
Transcript - NCBI ID NM_001270974.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001257903.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 2014-11-02 20:56:45 +01:00 (CET)
Date last edited N/A


Variants

236 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-116G>A r.(?) p.(=)
-/. - c.44T>C r.(?) p.(Met15Thr)
-/. - c.44T>C r.(?) p.(Met15Thr)
-?/. - c.131G>A r.(?) p.(Arg44Gln)
-?/. - c.131G>A r.(?) p.(Arg44Gln)
-?/. - c.136-7A>T r.(=) p.(=)
?/. - c.199C>A r.(?) p.(Arg67Ser)
+?/. - c.262-3A>G r.spl? p.?
+?/. - c.295C>T r.(?) p.(Gln99*)
-?/. - c.316A>G r.(?) p.(Ile106Val)
+?/. - c.487C>T r.(?) p.(Arg163Ter)
?/. - c.865T>C r.(?) p.(Tyr289His)
-?/. - c.955A>G r.(?) p.(Ile319Val)
-?/. - c.1003G>T r.(?) p.(Val335Leu)
-?/. - c.1003G>T r.(?) p.(Val335Leu)
?/. - c.1079A>G r.(?) p.(Glu360Gly)
?/. - c.1095dup r.(?) p.(Glu366*)
?/. - c.1105A>G r.(?) p.(Ile369Val)
+?/. 9 c.1147C>T r.(?) p.(Arg383*)
-?/. - c.1148G>A r.(?) p.(Arg383Gln)
-?/. - c.1266C>T r.(?) p.(Thr422=)
-?/. - c.1309A>G r.(?) p.(Ile437Val)
?/. - c.1396G>A r.(?) p.(Glu466Lys)
?/. - c.1671_1673del r.(?) p.(Arg557_Gly558delinsSerSer)
-?/. - c.1712C>G r.(?) p.(Ala571Gly)
+?/. - c.1739-2A>G r.spl? p.?
+/. 14 c.1797C>G r.(?) p.(Tyr599Ter)
+/. 14 c.1797C>G r.(?) p.(Tyr599Ter)
+/. 14 c.1797C>G r.(?) p.(Tyr599Ter)
?/. - c.1805G>A r.(?) p.(Arg602His)
-?/. - c.1855C>T r.(?) p.(His619Tyr)
-?/. - c.1934A>T r.(?) p.(Asp645Val)
?/. - c.2051T>C r.(?) p.(Val684Ala)
-/. - c.2075+355A>G r.(=) p.(=)
-?/. - c.2177A>G r.(?) p.(Asp726Gly)
-?/. - c.2187A>G r.(?) p.(Pro729=)
?/. - c.2255C>G r.(?) p.(Pro752Arg)
-?/. - c.2259C>T r.(?) p.(Ser753=)
-?/. - c.2281A>T r.(?) p.(Thr761Ser)
-?/. - c.2284A>G r.(?) p.(Ile762Val)
?/. - c.2371C>G r.(?) p.(Pro791Ala)
-?/. - c.2377-10C>T r.(=) p.(=)
?/. - c.2377-9G>A r.(=) p.(=)
?/. - c.2512T>G r.(?) p.(Phe838Val)
-?/. - c.2859G>A r.(?) p.(Gln953=)
?/. - c.2956G>A r.(?) p.(Val986Met)
-?/. - c.2974G>A r.(?) p.(Ala992Thr)
-?/. - c.2974G>A r.(?) p.(Ala992Thr)
-?/. - c.3018C>T r.(?) p.(Leu1006=)
-/. - c.3135C>T r.(?) p.(Val1045=)
+/. - c.3175C>T r.(?) p.(Arg1059*)
-?/. - c.3246C>T r.(?) p.(Thr1082=)
-?/. - c.3291A>G r.(?) p.(Ile1097Met)
-/. 22 c.3291A>G r.3291a>g p.Ile1097Met
?/. - c.3365T>C r.(?) p.(Leu1122Pro)
?/. - c.3365T>C r.(?) p.(Leu1122Pro)
-?/. - c.3592G>A r.(?) p.(Val1198Ile)
+/. 24i c.3786-1G>T r.3786_3864del p.Thr1263Lysfs*2
?/. - c.3845del r.(?) p.(Ala1282Valfs*4)
?/. - c.3881C>G r.(?) p.(Ser1294Cys)
-?/. - c.3954G>A r.(?) p.(Gln1318=)
-?/. - c.4172A>G r.(?) p.(Lys1391Arg)
-/. - c.4195C>T r.(?) p.(Leu1399=)
-?/. - c.4271C>A r.(?) p.(Thr1424Asn)
?/. - c.4333-6G>A r.(=) p.(=)
-/. - c.4333-4G>A r.spl? p.?
?/. - c.4430A>G r.(?) p.(His1477Arg)
?/. - c.4463A>G r.(?) p.(Glu1488Gly)
-?/. - c.4588G>T r.(?) p.(Asp1530Tyr)
-?/. - c.4600A>G r.(?) p.(Ile1534Val)
-?/. - c.4710A>C r.(?) p.(Thr1570=)
-?/. - c.4712C>A r.(?) p.(Thr1571Asn)
-?/. - c.4866T>C r.(?) p.(Phe1622=)
?/. - c.4990G>T r.(?) p.(Gly1664Trp)
-?/. - c.5108G>A r.(?) p.(Arg1703His)
?/. - c.5302G>A r.(?) p.(Glu1768Lys)
?/. - c.5313del r.(?) p.(Ile1772PhefsTer15)
-/. - c.5627G>A r.(?) p.(Arg1876Gln)
?/. - c.5638G>A r.(?) p.(Gly1880Ser)
?/. - c.5674C>T r.(?) p.(Arg1892Cys)
?/. - c.5674del r.(?) p.(Arg1892AlafsTer18)
?/. - c.5675G>A r.(?) p.(Arg1892His)
?/. - c.5767G>A r.(?) p.(Glu1923Lys)
?/. - c.5772T>A r.(?) p.(Asn1924Lys)
-?/. - c.5854C>G r.(?) p.(Arg1952Gly)
-?/. - c.5855G>A r.(?) p.(Arg1952Gln)
+/. 39 c.5969-2A>G r.spl p.?
-?/. - c.6053G>A r.(?) p.(Arg2018His)
?/. - c.6061G>A r.(?) p.(Gly2021Ser)
-?/. - c.6166G>A r.(?) p.(Val2056Met)
?/. - c.6188C>T r.(?) p.(Ala2063Val)
-?/. - c.6188C>T r.(?) p.(Ala2063Val)
+/. 40 c.6316+1G>A r.spl p.?
?/. - c.6344_6345dup r.(?) p.(Ile2116SerfsTer2)
-?/. - c.6551C>T r.(?) p.(Pro2184Leu)
?/. - c.6578G>C r.(?) p.(Ser2193Thr)
-?/. - c.6606C>T r.(?) p.(Thr2202=)
?/. - c.6615G>A r.(?) p.(Met2205Ile)
-?/. - c.6630G>A r.(?) p.(Pro2210=)
?/. - c.6668A>G r.(?) p.(Gln2223Arg)
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.