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H-Invitational ID: HIT000431205 Accession number: AK312339 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Poly [ADP-ribose] polymerase 1; PARP-1; EC=2.4.2.30; ADP-ribosyltransferase diphtheria toxin-like 1; ARTD1; NAD(+) ADP-ribosyltransferase 1; ADPRT 1; Poly[ADP-ribose] synthase 1;
 
 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
40 .. 40 T/C rs200785577 - 5'UTR
41 .. 41 A/G rs199833781 - 5'UTR
71 .. 71 G/C rs907187 + 5'UTR
82 .. 82 G/C rs11541662 + 5'UTR
101 .. 101 C/G rs201256399 - CDS Nonsynonymous[Ser5Trp]
202 .. 202 G/C rs142025196 - CDS Nonsynonymous[Val39Leu]
215 .. 215 T/C rs202022212 - CDS Nonsynonymous[Met43Thr]
249 .. 249 C/G rs3738708 + CDS Nonsynonymous[Phe54Leu]
302 .. 302 A/C rs147105590 - CDS Nonsynonymous[Asp72Ala]
310 .. 310 T/C rs182219056 - CDS Nonsynonymous[Ser75Pro]
320 .. 320 G/A rs139202063 - CDS Nonsynonymous[Arg78Gln]
321 .. 321 G/A rs200181050 - CDS Synonymous[Arg78Arg]
330 .. 330 C/T rs1805404 + CDS Synonymous[Asp81Asp]
351 .. 351 A/G rs200812750 - CDS Synonymous[Thr88Thr]
354 .. 354 G/A rs201586576 - CDS Synonymous[Ala89Ala]
414 .. 414 T/A rs199783084 - CDS Synonymous[Thr109Thr]
426 .. 426 T/C rs61750986 - CDS Synonymous[Phe113Phe]
435 .. 435 G/A rs182943999 - CDS Synonymous[Glu116Glu]
442 .. 442 A/G rs143431455 - CDS Nonsynonymous[Lys119Glu]
449 .. 449 A/G rs200370133 - CDS Nonsynonymous[Asn121Ser]
457 .. 457 A/G rs139924814 - CDS Nonsynonymous[Thr124Ala]
459 .. 459 G/A rs199514247 - CDS Synonymous[Thr124Thr]
473 .. 473 T/C rs201841505 - CDS Nonsynonymous[Met129Thr]
499 .. 499 C/T rs193238922 - CDS Nonsynonymous[Arg138Cys]
537 .. 537 G/T rs142376976 - CDS Nonsynonymous[Gln150His]
569 .. 569 G/T rs144252227 - CDS Nonsynonymous[Gly161Val]
604 .. 604 C/T rs147537486 - CDS Nonsynonymous[Arg173Trp]
605 .. 605 G/A rs200399922 - CDS Nonsynonymous[Arg173Gln]
609 .. 609 C/G rs13306125 + CDS Synonymous[Pro174Pro]
620 .. 620 C/T rs202057244 - CDS Nonsynonymous[Ala178Val]
628 .. 628 C/T rs113258217 - CDS Nonsynonymous[Leu181Phe]
649 .. 649 G/A rs1805409 + CDS Nonsynonymous[Ala188Thr]
652 .. 652 A/G rs143482147 - CDS Nonsynonymous[Thr189Ala]
681 .. 681 G/A rs146652447 - CDS Synonymous[Gln198Gln]
734 .. 734 T/C rs144925873 - CDS Nonsynonymous[Val216Ala]
743 .. 743 T/C rs149927756 - CDS Nonsynonymous[Val219Ala]
746 .. 746 C/T rs139232092 - CDS Nonsynonymous[Ala220Val]
808 .. 808 C/G rs151069237 - CDS Nonsynonymous[Gln241Glu]
814 .. 814 G/A rs200470832 - CDS Nonsynonymous[Asp243Asn]
830 .. 830 T/C rs111635488 - CDS Nonsynonymous[Ile248Thr]
846 .. 846 G/T rs139912909 - CDS Nonsynonymous[Lys253Asn]
853 .. 853 T/C rs202234597 - CDS Nonsynonymous[Cys256Arg]
872 .. 872 A/G rs61750985 - CDS Nonsynonymous[Lys262Arg]
879 .. 879 A/C rs201080980 - CDS Synonymous[Leu264Leu]
917 .. 917 C/T rs201975538 - CDS Nonsynonymous[Ser277Leu]
920 .. 920 C/T rs201777393 - CDS Nonsynonymous[Ala278Val]
933 .. 933 A/G rs147456215 - CDS Synonymous[Arg282Arg]
939 .. 939 T/C rs1805414 + CDS Synonymous[Ala284Ala]
945 .. 945 C/T rs180691231 - CDS Synonymous[Gly286Gly]
954 .. 954 C/T rs200757349 - CDS Synonymous[Phe289Phe]
964 .. 964 C/T rs149619679 - CDS Nonsynonymous[Leu293Phe]
968 .. 968 C/T rs138017860 - CDS Nonsynonymous[Pro294Leu]
983 .. 983 C/T rs141200001 - CDS Nonsynonymous[Ser299Leu]
997 .. 997 T/C rs200557411 - CDS Nonsynonymous[Phe304Leu]
1026 ^ 1027 -/G rs34723923 - CDS
1029 .. 1029 C/T rs61750984 - CDS Synonymous[Asp314Asp]
1060 .. 1060 A/G rs146522827 - CDS Nonsynonymous[Thr325Ala]
1080 .. 1080 G/A rs145545176 - CDS Synonymous[Lys331Lys]
1081 .. 1081 G/T rs150021518 - CDS AA-STOP[Glu332*]
1087 .. 1087 G/A rs3219057 + CDS Nonsynonymous[Val334Ile]
1090 .. 1090 A/T rs150693561 - CDS Nonsynonymous[Thr335Ser]
1097 .. 1097 A/G rs191733508 - CDS Nonsynonymous[Lys337Arg]
1143 .. 1143 G/A/C rs1805415 + CDS
1170 .. 1170 C/T rs201783835 - CDS Synonymous[Thr361Thr]
1188 .. 1188 C/T rs142852413 - CDS Synonymous[Ala367Ala]
1201 .. 1201 T/C rs200129594 - CDS Nonsynonymous[Ser372Pro]
1216 .. 1216 C/T rs2230484 + CDS Nonsynonymous[Pro377Ser]
1233 .. 1233 C/G rs138576809 - CDS Synonymous[Ser382Ser]
1235 .. 1235 C/A rs3219062 + CDS Nonsynonymous[Ser383Tyr]
1290 .. 1290 G/T rs79858762 - CDS Synonymous[Leu401Leu]
1295 .. 1295 G/A rs150379323 - CDS Nonsynonymous[Arg403Gln]
1310 .. 1310 T/G rs79529505 - CDS Nonsynonymous[Val408Gly]
1332 .. 1332 C/T rs61731503 - CDS Synonymous[Leu415Leu]
1358 .. 1358 A/G rs147711929 - CDS Nonsynonymous[Asn424Ser]
1360 .. 1360 A/G rs142346536 - CDS Nonsynonymous[Lys425Glu]
1406 .. 1406 A/G rs145185569 - CDS Nonsynonymous[Asn440Ser]
1441 .. 1441 C/A rs139399785 - CDS Synonymous[Arg452Arg]
1458 .. 1458 C/T rs143814826 - CDS Synonymous[Asp457Asp]
1461 .. 1461 C/T rs61731501 - CDS Synonymous[Phe458Phe]
1477 .. 1477 G/A rs149332554 - CDS Nonsynonymous[Ala464Thr]
1512 .. 1512 G/A rs138653264 - CDS Synonymous[Ala475Ala]
1529 .. 1529 G/C rs138072805 - CDS Nonsynonymous[Trp481Ser]
1530 .. 1530 G/C rs201371549 - CDS Nonsynonymous[Trp481Cys]
1592 .. 1592 C/T rs183533639 - CDS Nonsynonymous[Ala502Val]
1675 .. 1675 G/A rs146636298 - CDS Nonsynonymous[Gly530Arg]
1686 .. 1686 G/T rs200491303 - CDS Synonymous[Val533Val]
1714 .. 1714 G/A rs200485374 - CDS Nonsynonymous[Ala543Thr]
1716 .. 1716 G/A rs116547814 - CDS Synonymous[Ala543Ala]
1763 .. 1763 T/C rs201365502 - CDS Nonsynonymous[Leu559Pro]
1764 .. 1764 G/T rs201124419 - CDS Synonymous[Leu559Leu]
1787 .. 1787 A/G rs201570154 - CDS Nonsynonymous[Asn567Ser]
1801 .. 1801 C/T rs148920242 - CDS Synonymous[Leu572Leu]
1819 .. 1819 G/A rs140136106 - CDS Nonsynonymous[Asp578Asn]
1907 .. 1907 A/C rs146121136 - CDS Nonsynonymous[Lys607Thr]
1926 .. 1926 C/G rs1059011 + CDS Nonsynonymous[His613Gln]
1947 .. 1947 A/G rs139083979 - CDS Synonymous[Glu620Glu]
1953 .. 1953 C/T rs148181159 - CDS Synonymous[Thr622Thr]
1959 .. 1959 C/T rs147221209 - CDS Synonymous[Asn624Asn]
1961 .. 1961 C/T rs146978206 - CDS Nonsynonymous[Ala625Val]
1982 .. 1982 C/T rs138228205 - CDS Nonsynonymous[Thr632Met]
1983 .. 1983 G/A rs200966933 - CDS Synonymous[Thr632Thr]
2001 .. 2001 C/T rs13306137 + CDS Synonymous[Phe638Phe]
2078 .. 2078 A/G rs145186011 - CDS Nonsynonymous[Lys664Arg]
2085 .. 2085 C/T rs74683779 - CDS Synonymous[Pro666Pro]
2109 .. 2109 G/A rs145512649 - CDS Synonymous[Lys674Lys]
2141 .. 2141 C/T rs145719349 - CDS Nonsynonymous[Ala685Val]
2169 .. 2169 G/A rs13306138 + CDS Synonymous[Gln694Gln]
2179 .. 2179 T/C rs139484215 - CDS Synonymous[Leu698Leu]
2262 .. 2262 C/T rs13306119 + CDS Synonymous[Ser725Ser]
2314 .. 2314 G/A rs201652970 - CDS Nonsynonymous[Asp743Asn]
2337 .. 2337 G/A rs200978353 - CDS Synonymous[Pro750Pro]
2371 .. 2371 G/C rs199498180 - CDS Nonsynonymous[Val762Leu]
2372 .. 2372 T/C rs1136410 + CDS Nonsynonymous[Val762Ala]
2373 .. 2373 G/A rs200801740 - CDS Synonymous[Val762Val]
2453 .. 2453 C/T rs139753887 - CDS Nonsynonymous[Pro789Leu]
2457 .. 2457 C/T/A rs148234314 - CDS
2527 .. 2527 A/G rs200630156 - CDS Nonsynonymous[Ile814Val]
2557 .. 2557 A/G rs149375401 - CDS Nonsynonymous[Thr824Ala]
2562 .. 2562 A/G rs138839443 - CDS Synonymous[Thr825Thr]
2567 .. 2567 A/G rs1136420 + CDS Nonsynonymous[Asn827Ser]
2570 .. 2570 C/T rs147825810 - CDS Nonsynonymous[Ala828Val]
2571 .. 2571 G/A rs140555704 - CDS Synonymous[Ala828Ala]
2589 .. 2589 C/T rs142137883 - CDS Synonymous[Ile834Ile]
2616 .. 2616 C/T rs148631906 - CDS Synonymous[Gly843Gly]
2623 .. 2623 C/A rs186612310 - CDS Nonsynonymous[Gln846Lys]
2627 .. 2627 G/A rs182639036 - CDS Nonsynonymous[Arg847His]
2657 .. 2657 G/A rs190105316 - CDS Nonsynonymous[Arg857Gln]
2732 .. 2732 C/T rs11541664 + CDS Nonsynonymous[Pro882Leu]
2739 .. 2739 G/A rs202143014 - CDS Synonymous[Ala884Ala]
2779 .. 2779 G/T/A rs139425386 - CDS
2802 .. 2802 C/T rs115098026 - CDS Synonymous[Ala905Ala]
2810 .. 2810 G/A rs1059040 + CDS Nonsynonymous[Cys908Tyr]
2813 .. 2813 A/G rs149314007 - CDS Nonsynonymous[His909Arg]
2828 .. 2828 A/G rs187041817 - CDS Nonsynonymous[Asp914Gly]
2837 .. 2837 G/C rs61731502 - CDS Nonsynonymous[Gly917Ala]
2838 .. 2838 C/G rs149424805 - CDS Synonymous[Gly917Gly]
2844 .. 2844 C/T rs139592583 - CDS Synonymous[Ile919Ile]
2876 .. 2876 A/G rs189410139 - CDS Nonsynonymous[Tyr930Cys]
2880 .. 2880 A/G rs199842726 - CDS Synonymous[Glu931Glu]
2906 .. 2906 A/G rs3219145 + CDS Nonsynonymous[Lys940Arg]
2953 .. 2953 C/T rs78381515 - CDS Nonsynonymous[Pro956Ser]
2978 .. 2978 T/C rs201340386 - CDS Nonsynonymous[Leu964Pro]
2990 .. 2990 A/G rs199689226 - CDS Nonsynonymous[Asp968Gly]
2993 .. 2993 T/C rs201004247 - CDS Nonsynonymous[Val969Ala]
3002 .. 3002 G/A rs201506704 - CDS Nonsynonymous[Gly972Glu]
3042 .. 3042 A/G rs138175519 - CDS Synonymous[Leu985Leu]
3091 .. 3091 C/T rs149006175 - CDS Synonymous[Leu1002Leu]
3124 .. 3124 C/A rs138906127 - CDS Nonsynonymous[Leu1013Met]
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
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 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer