H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID:
HIT000493768
Accession number:
AK299144
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Similar to Tail-anchored protein insertion receptor WRB; Congenital heart disease 5 protein; Tryptophan-rich basic protein; WRB;
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
70 .. 70
G/A
rs201996451
+
CDS
Synonymous[Ala9Ala]
90 .. 90
G/T
rs145445316
+
CDS
Nonsynonymous[Arg16Ile]
93 .. 93
C/T
rs148828044
+
CDS
Nonsynonymous[Ala17Val]
94 .. 94
G/A
rs142448585
+
CDS
Synonymous[Ala17Ala]
116 .. 116
G/C
rs201188685
+
CDS
Nonsynonymous[Glu25Gln]
142 .. 142
C/T
rs202164209
+
CDS
Synonymous[Asp33Asp]
157 .. 157
T/C
rs151332723
+
CDS
Synonymous[Tyr38Tyr]
218 .. 218
C/T
rs200730906
+
CDS
Nonsynonymous[Arg59Trp]
219 .. 219
G/A
rs141744454
+
CDS
Nonsynonymous[Arg59Gln]
235 .. 235
C/T
rs11548339
+
CDS
Synonymous[Ala64Ala]
240 .. 240
T/G
rs140313888
+
CDS
Nonsynonymous[Ile66Arg]
259 .. 259
C/T
rs147098320
+
CDS
Synonymous[Val72Val]
268 .. 268
C/T
rs138483038
+
CDS
Synonymous[Tyr75Tyr]
269 .. 269
G/A
rs35946782
-
CDS
Nonsynonymous[Val76Ile]
282 ^ 283
-/C
rs71944971
+
CDS
317 .. 317
G/A
rs150225709
+
CDS
Nonsynonymous[Val92Ile]
331 .. 331
C/T
rs11548341
+
CDS
Synonymous[Val96Val]
332 .. 332
G/A
rs186647408
+
CDS
Nonsynonymous[Val97Met]
355 .. 355
T/C
rs17850909
+
CDS
Synonymous[Pro104Pro]
363 .. 363
G/A
rs138689773
+
CDS
Nonsynonymous[Arg107His]
419 .. 419
T/C
rs200033889
+
CDS
Synonymous[Leu126Leu]
442 .. 442
T/C
rs117922305
+
CDS
Synonymous[Ala133Ala]
456 .. 456
C/T
rs199876754
+
CDS
Nonsynonymous[Pro138Leu]
457 .. 457
G/T
rs141321319
+
CDS
Synonymous[Pro138Pro]
486 .. 486
C/T
rs202237220
+
3'UTR
515 .. 515
C/G
rs76706196
+
3'UTR
543 .. 543
T/C
rs74533281
+
3'UTR
564 .. 564
G/A
rs145713851
+
3'UTR
609 .. 609
T/A
rs189865422
+
3'UTR
618 .. 618
T/G
rs1060180
+
3'UTR
683 .. 683
G/A
rs182083074
+
3'UTR
707 .. 707
C/T
rs186280423
+
3'UTR
729 .. 729
G/A
rs76131106
+
3'UTR
799 ^ 800
-/A
rs66466519
+
3'UTR
891 .. 891
G/A
rs13230
+
3'UTR
894 .. 894
A/T
rs190014587
+
3'UTR
931 .. 931
A/G
rs180876541
+
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
;