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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---
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H-Invitational ID:
HIT000024387
Accession number:
AL096752
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Similar to Rab3 GTPase-activating protein catalytic subunit; RAB3 GTPase-activating protein 130 kDa subunit; Rab3-GAP p130; Rab3-GAP;
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
255 .. 255
A/T
rs184873123
+
5'UTR
306 .. 306
A/G
rs147876067
+
5'UTR
395 .. 395
A/T
rs189258229
+
5'UTR
632 .. 632
G/A
rs180945267
+
5'UTR
718 .. 718
G/A
rs117783103
+
5'UTR
861 .. 861
A/G
rs185162303
+
5'UTR
864 .. 864
T/G
rs188005159
+
5'UTR
867 .. 867
A/G
rs181395262
+
5'UTR
957 .. 957
T/G
rs186158351
+
5'UTR
1025 .. 1025
C/T
rs16831377
+
CDS
Synonymous[Cys9Cys]
1026 .. 1026
G/A
rs61762983
+
CDS
Nonsynonymous[Ala10Thr]
1042 .. 1042
C/T
rs56786863
+
CDS
Nonsynonymous[Ala15Val]
1062 .. 1062
C/T
rs141580332
+
CDS
Synonymous[Leu22Leu]
1098 .. 1098
G/A
rs139996349
+
CDS
Nonsynonymous[Ala34Thr]
1102 .. 1102
G/A
rs146072589
+
CDS
Nonsynonymous[Arg35Gln]
1188 .. 1188
A/C
rs148105837
+
CDS
Nonsynonymous[Ile64Leu]
1206 .. 1206
T/C
rs200907583
+
CDS
Nonsynonymous[Ser70Pro]
1232 .. 1232
C/T
rs61748693
+
CDS
Synonymous[Phe78Phe]
1308 .. 1308
C/T
rs148557417
+
CDS
Nonsynonymous[Arg104Trp]
1311 .. 1311
T/G
rs147738940
+
CDS
Nonsynonymous[Ser105Ala]
1346 .. 1346
A/G
rs200674508
+
CDS
Synonymous[Glu116Glu]
1374 .. 1374
A/G
rs145728829
+
CDS
Nonsynonymous[Arg126Gly]
1445 .. 1445
G/T
rs144455066
+
CDS
Nonsynonymous[Arg149Ser]
1490 .. 1490
G/A
rs138004494
+
CDS
Nonsynonymous[Met164Ile]
1535 .. 1535
A/G
rs113103875
+
CDS
Synonymous[Glu179Glu]
1569 .. 1569
C/A/G/T
rs77535003
+
CDS
1607 .. 1607
G/A
rs138464557
+
CDS
Synonymous[Pro203Pro]
1612 .. 1612
C/T
rs199983133
+
CDS
Nonsynonymous[Pro205Leu]
1617 .. 1617
C/T
rs200519153
+
CDS
Nonsynonymous[Pro207Ser]
1673 .. 1673
T/C
rs146045827
+
CDS
Synonymous[Phe225Phe]
1695 .. 1695
G/A
rs181952710
+
CDS
Nonsynonymous[Asp233Asn]
1723 .. 1723
G/A
rs11558414
+
3'UTR
1726 .. 1726
T/C
rs116237324
+
3'UTR
1808 .. 1808
T/C
rs16831395
+
3'UTR
1857 .. 1857
T/C
rs186292105
+
3'UTR
1925 .. 1925
A/T
rs199592452
+
3'UTR
1977 .. 1977
A/G
rs191219662
+
3'UTR
1985 .. 1985
G/A
rs113651023
+
3'UTR
2109 .. 2109
T/C
rs59746814
+
3'UTR
2128 .. 2128
C/T
rs147177352
+
3'UTR
2203 .. 2203
G/C
rs182541151
+
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
Type
Start
End
Strand
L1ME3D
54
106
+
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;