H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
H-Inv protein ID (HIP)
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Definition*
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---
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H-Invitational ID:
HIT000088695
Accession number:
BC015454
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Similar to U3 small nucleolar RNA-associated protein 6 homolog.
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
45 .. 45
G/A
rs78272471
-
5'UTR
53 .. 53
T/C
rs199526310
-
5'UTR
59 .. 59
T/C
rs113076339
-
5'UTR
82 .. 82
G/T
rs76761783
-
5'UTR
92 .. 92
A/G
rs16967042
-
5'UTR
102 .. 102
C/G
rs139107049
-
5'UTR
130 .. 130
A/G
rs111969582
-
5'UTR
133 .. 133
C/A
rs146195806
-
5'UTR
171 .. 171
A/G
rs141634580
-
5'UTR
194 .. 194
A/G
rs3760454
+
5'UTR
196 .. 196
A/G
rs113806075
-
5'UTR
208 .. 208
C/T
rs201848137
-
5'UTR
250 .. 250
A/C
rs202236562
-
5'UTR
303 .. 303
C/T
rs144023831
-
5'UTR
362 .. 362
G/A
rs149514713
-
5'UTR
388 .. 388
T/G
rs34859443
+
CDS
Nonsynonymous[Leu2Val]
412 .. 412
G/T
rs201757154
-
CDS
Nonsynonymous[Ala10Ser]
419 .. 419
G/A
rs201254967
-
CDS
AA-STOP[Trp12*]
451 .. 451
C/G
rs139868836
-
CDS
Nonsynonymous[Arg23Gly]
469 .. 469
G/A
rs188357533
-
CDS
Nonsynonymous[Ala29Thr]
487 .. 487
C/T
rs141480679
-
CDS
Nonsynonymous[Arg35Cys]
490 .. 490
G/T
rs199527189
-
CDS
Nonsynonymous[Ala36Ser]
496 .. 496
C/T
rs138291704
-
CDS
Nonsynonymous[Arg38Cys]
497 .. 497
G/A
rs200732643
-
CDS
Nonsynonymous[Arg38His]
533 .. 533
A/T
rs147043256
-
CDS
Nonsynonymous[Tyr50Phe]
550 .. 550
A/G
rs201293446
-
CDS
Nonsynonymous[Met56Val]
561 .. 561
A/G
rs115268338
-
CDS
Synonymous[Glu59Glu]
578 .. 578
A/C
rs151277876
-
CDS
Nonsynonymous[Lys65Thr]
579 .. 579
G/C
rs142388164
-
CDS
Nonsynonymous[Lys65Asn]
581 .. 581
A/C
rs200394185
-
CDS
Nonsynonymous[Glu66Ala]
646 .. 646
G/A
rs113683685
-
CDS
Nonsynonymous[Glu88Lys]
719 .. 719
C/T
rs146623373
-
CDS
Nonsynonymous[Ser112Leu]
720 .. 720
G/A
rs138959717
-
CDS
Synonymous[Ser112Ser]
749 .. 749
A/G
rs144499286
-
CDS
Nonsynonymous[Asp122Gly]
758 .. 758
A/G
rs201823042
-
CDS
Nonsynonymous[Lys125Arg]
834 .. 834
A/T
rs147328342
-
CDS
Nonsynonymous[Leu150Phe]
848 .. 848
A/G
rs200620009
-
CDS
Nonsynonymous[Gln155Arg]
877 .. 877
G/A
rs201014530
-
CDS
Nonsynonymous[Ala165Thr]
899 .. 899
G/A
rs201792460
-
CDS
Nonsynonymous[Arg172Gln]
909 .. 909
G/C
rs139786553
-
CDS
Nonsynonymous[Glu175Asp]
923 .. 923
T/C
rs146176883
-
CDS
Nonsynonymous[Val180Ala]
938 .. 938
T/G
rs149676036
-
CDS
Nonsynonymous[Val185Gly]
951 .. 951
A/C
rs139498305
-
CDS
Synonymous[Pro189Pro]
1001 .. 1001
C/G
rs185388825
-
CDS
Nonsynonymous[Thr206Ser]
1030 .. 1030
G/C
rs79809527
-
CDS
Nonsynonymous[Gly216Arg]
1063 .. 1063
A/G
rs188945229
-
CDS
Nonsynonymous[Arg227Gly]
1209 .. 1209
G/C
rs199600351
-
CDS
Nonsynonymous[Gln275His]
1223 .. 1223
T/G
rs77929397
-
CDS
Nonsynonymous[Val280Gly]
1241 ^ 1242
-/T
rs35553636
-
CDS
1271 .. 1271
C/G/A
rs150542174
-
CDS
1401 .. 1401
C/T
rs199682205
-
CDS
Synonymous[Ala339Ala]
1499 .. 1499
G/A
rs141710819
-
CDS
Nonsynonymous[Arg372Gln]
1614 .. 1614
C/T
rs138066981
-
CDS
Synonymous[Ser410Ser]
1619 .. 1619
A/G
rs147417068
-
CDS
Nonsynonymous[Asp412Gly]
1673 .. 1673
G/A
rs200802612
-
CDS
Nonsynonymous[Arg430Lys]
1685 .. 1685
G/A
rs201762567
-
CDS
Nonsynonymous[Cys434Tyr]
1702 .. 1702
C/T
rs199655991
-
CDS
AA-STOP[Arg440*]
1759 .. 1759
A/G
rs142869504
-
CDS
Nonsynonymous[Met459Val]
1812 .. 1812
T/C
rs16967028
-
3'UTR
1949 .. 1949
T/G
rs146353822
-
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
;