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H-Invitational ID: HIT000493450 Accession number: AK298826 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Nuclear valosin-containing protein-like isoform 2.
 
 

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
2 .. 2 A/G rs2896990 + 5'UTR
22 .. 22 C/T/G rs138268824 - 5'UTR
34 .. 34 G/A rs150333766 - 5'UTR
54 .. 54 A/T rs185167238 - 5'UTR
136 .. 136 A/G rs188734539 - 5'UTR
159 .. 159 G/T rs148207074 - 5'UTR
180 .. 180 T/G rs200417559 - 5'UTR
251 .. 251 A/G rs141925881 - 5'UTR
288 .. 288 A/T rs145284132 - CDS Synonymous[Ala10Ala]
303 .. 303 T/C rs146647214 - CDS Synonymous[Ser15Ser]
322 .. 322 C/G rs200984793 - CDS Nonsynonymous[Arg22Gly]
323 .. 323 G/A rs149707008 - CDS Nonsynonymous[Arg22Gln]
335 .. 335 C/T rs144983418 - CDS Nonsynonymous[Pro26Leu]
343 .. 343 G/A rs200499785 - CDS Nonsynonymous[Val29Ile]
353 .. 353 C/T rs188779693 - CDS Nonsynonymous[Thr32Ile]
380 .. 380 C/G rs182870329 - CDS Nonsynonymous[Thr41Ser]
395 .. 395 G/A rs61729123 - CDS Nonsynonymous[Arg46Gln]
396 .. 396 A/G rs7534447 - CDS Synonymous[Arg46Arg]
541 .. 541 A/G rs35056350 - CDS Nonsynonymous[Ile95Val]
550 .. 550 A/G rs35095827 - CDS Nonsynonymous[Ile98Val]
595 .. 595 C/T rs185890200 - CDS Nonsynonymous[Arg113Trp]
604 .. 604 A/C rs201576372 - CDS Nonsynonymous[Lys116Gln]
641 .. 641 A/T rs138739288 - CDS Nonsynonymous[Asp128Val]
678 .. 678 A/G rs3754090 + CDS Synonymous[Leu140Leu]
680 .. 680 A/G rs116571578 - CDS Nonsynonymous[Gln141Arg]
724 .. 724 G/A rs202032588 - CDS Nonsynonymous[Val156Met]
744 .. 744 A/G rs142174769 - CDS Synonymous[Gly162Gly]
746 .. 746 G/A rs149082458 - CDS Nonsynonymous[Gly163Asp]
754 .. 754 A/G rs184833826 - CDS Nonsynonymous[Met166Val]
794 .. 794 G/A rs143693597 - CDS Nonsynonymous[Arg179His]
801 .. 801 G/A rs192990289 - CDS Synonymous[Pro181Pro]
814 .. 814 C/T rs146061915 - CDS Nonsynonymous[His186Tyr]
823 .. 823 G/A rs12084919 - CDS Nonsynonymous[Val189Ile]
887 .. 887 A/G rs142913195 - CDS Nonsynonymous[His210Arg]
903 .. 903 A/G rs143535962 - CDS Synonymous[Glu215Glu]
932 .. 932 C/G rs201749970 - CDS Nonsynonymous[Ala225Gly]
951 .. 951 A/G rs16846339 - CDS Synonymous[Gly231Gly]
957 .. 957 C/T rs143457273 - CDS Synonymous[Ser233Ser]
971 .. 971 A/G rs138668303 - CDS Nonsynonymous[Gln238Arg]
1010 .. 1010 C/T rs146483979 - CDS Nonsynonymous[Ala251Val]
1020 .. 1020 C/T rs202040245 - CDS Synonymous[Ile254Ile]
1045 .. 1045 A/G rs199859247 - CDS Nonsynonymous[Ile263Val]
1147 ^ 1148 -/C rs34955143 - CDS
1149 .. 1149 G/T rs201587242 - CDS Synonymous[Arg297Arg]
1150 .. 1150 G/A rs34631151 - CDS Nonsynonymous[Val298Ile]
1182 .. 1182 C/T rs142809512 - CDS Synonymous[Asp308Asp]
1185 .. 1185 G/A rs149850559 - CDS Synonymous[Ser309Ser]
1187 .. 1187 T/G rs201713614 - CDS AA-STOP[Leu310*]
1209 .. 1209 G/A rs147300158 - CDS Synonymous[Ala317Ala]
1354 .. 1354 G/T rs112890149 - CDS Nonsynonymous[Ala366Ser]
1391 .. 1391 G/A rs199638209 - CDS Nonsynonymous[Cys378Tyr]
1398 .. 1398 C/T rs200507325 - CDS Synonymous[Val380Val]
1442 .. 1442 C/G rs139575589 - CDS Nonsynonymous[Pro395Arg]
1472 .. 1472 T/G rs200066624 - CDS Nonsynonymous[Val405Gly]
1485 .. 1485 G/C rs141166869 - CDS Nonsynonymous[Arg409Ser]
1501 .. 1501 A/G rs201616896 - CDS Nonsynonymous[Thr415Ala]
1541 .. 1541 T/A rs202007160 - CDS AA-STOP[Leu428*]
1591 .. 1591 A/G rs143207798 - CDS Nonsynonymous[Ile445Val]
1617 .. 1617 T/G rs138081362 - CDS Synonymous[Ala453Ala]
1676 .. 1676 C/T rs201811533 - CDS Nonsynonymous[Thr473Ile]
1749 .. 1749 C/T rs140321757 - CDS Synonymous[Asn497Asn]
1767 .. 1767 T/G rs145277303 - CDS Synonymous[Ala503Ala]
1800 .. 1800 T/G rs201113340 - CDS Synonymous[Leu514Leu]
1849 .. 1849 A/C rs151245412 - CDS Nonsynonymous[Asn531His]
1863 .. 1863 A/G rs141045059 - CDS Synonymous[Leu535Leu]
1870 .. 1870 A/C rs147736516 - CDS Nonsynonymous[Ile538Leu]
1898 .. 1898 A/C rs144521437 - CDS Nonsynonymous[Asn547Thr]
1945 .. 1945 C/T rs183678662 - CDS AA-STOP[Arg563*]
1953 .. 1953 G/A rs149269387 - CDS Synonymous[Lys565Lys]
1965 .. 1965 C/T rs140910184 - CDS Synonymous[Pro569Pro]
1989 .. 1989 G/A rs150509891 - CDS Synonymous[Val577Val]
2013 .. 2013 A/G rs138138775 - CDS Synonymous[Ser585Ser]
2034 .. 2034 C/T rs199771667 - 3'UTR
2051 .. 2051 G/A rs143731277 - 3'UTR
2076 .. 2076 G/A rs199945670 - 3'UTR
2169 ^ 2170 -/G rs36093498 - 3'UTR
2175 .. 2175 A/G rs76700603 - 3'UTR
2210 .. 2210 C/T rs147752785 - 3'UTR
2232 .. 2232 C/G rs201381012 - 3'UTR
2256 .. 2256 A/G rs140573935 - 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Mini-G

 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