H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
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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.
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information
Single Nucleotide Polymorphism (SNP) and indel
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
Repeat
No data available
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;