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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H-Invitational ID:
HIT000563881
Accession number:
AB593080
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Similar to Beta-adducin isoform f.
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
143 .. 143
C/T
rs2287099
-
5'UTR
150 .. 150
G/T
rs28365917
+
5'UTR
159 .. 159
T/A
rs2287098
-
5'UTR
247 .. 247
C/T
rs2287097
-
5'UTR
260 .. 260
T/C
rs115262291
-
5'UTR
280 .. 280
A/G
rs146289331
-
5'UTR
383 .. 383
C/T
rs188664399
-
CDS
Synonymous[Pro13Pro]
387 .. 387
G/A
rs199889944
-
CDS
Nonsynonymous[Gly15Arg]
391 .. 391
A/G
rs62642474
-
CDS
Nonsynonymous[Lys16Arg]
399 .. 399
G/A
rs200519011
-
CDS
Nonsynonymous[Glu19Lys]
439 .. 439
A/G
rs201443444
-
CDS
Nonsynonymous[Gln32Arg]
442 .. 442
G/A
rs34241538
+
CDS
Nonsynonymous[Gly33Glu]
474 .. 474
G/A
rs4986
+
CDS
Nonsynonymous[Asp44Asn]
509 .. 509
G/A
rs141187526
-
CDS
Synonymous[Ala55Ala]
517 .. 517
G/A
rs144732476
-
CDS
Nonsynonymous[Arg58Gln]
524 .. 524
C/G
rs138167651
-
CDS
Nonsynonymous[Asp60Glu]
591 .. 591
C/T
rs114456016
-
CDS
Synonymous[Leu83Leu]
598 .. 598
G/T
rs149147182
-
CDS
Nonsynonymous[Gly85Val]
644 .. 644
C/A
rs17006140
-
CDS
Synonymous[Ile100Ile]
653 .. 653
G/A
rs144778680
-
CDS
Synonymous[Leu103Leu]
662 .. 662
C/T
rs200212314
-
CDS
Synonymous[Ile106Ile]
663 .. 663
G/A
rs150703767
-
CDS
Nonsynonymous[Ala107Thr]
685 .. 685
C/G
rs4987
+
CDS
Nonsynonymous[Ser114Cys]
701 .. 701
G/A
rs144423262
-
CDS
Synonymous[Pro119Pro]
780 .. 780
G/A
rs75081591
-
CDS
Nonsynonymous[Glu146Lys]
789 .. 789
A/C
rs145968821
-
CDS
Nonsynonymous[Met149Leu]
830 .. 830
C/G
rs114904807
-
CDS
Synonymous[Leu162Leu]
892 .. 892
A/G
rs138007719
-
CDS
Nonsynonymous[His183Arg]
938 .. 938
G/A
rs150383515
-
CDS
Synonymous[Ala198Ala]
945 .. 945
C/T
rs200581515
-
CDS
Synonymous[Leu201Leu]
955 .. 955
T/A
rs7425188
-
CDS
Nonsynonymous[Val204Glu]
999 .. 999
C/T
rs148091443
-
CDS
Nonsynonymous[Pro219Ser]
1016 .. 1016
C/T
rs147916626
-
CDS
Synonymous[Gly224Gly]
1031 .. 1031
G/A
rs144869244
-
CDS
Synonymous[Ser229Ser]
1043 .. 1043
A/G
rs181512905
-
CDS
Synonymous[Ala233Ala]
1056 .. 1056
G/A
rs144714020
-
CDS
Nonsynonymous[Val238Met]
1065 .. 1065
A/G
rs200730724
-
CDS
Nonsynonymous[Ile241Val]
1078 .. 1078
A/G
rs201811808
-
CDS
Nonsynonymous[His245Arg]
1224 .. 1224
C/G
rs145329028
-
CDS
Nonsynonymous[Leu294Val]
1250 .. 1250
G/A
rs139387703
-
CDS
Synonymous[Val302Val]
1251 .. 1251
C/T
rs111700825
-
CDS
Synonymous[Leu303Leu]
1266 .. 1266
G/T
rs139808041
-
CDS
Nonsynonymous[Val308Leu]
1301 .. 1301
T/C
rs4989
+
CDS
Synonymous[Phe319Phe]
1346 .. 1346
G/A
rs142433540
-
CDS
Synonymous[Ser334Ser]
1362 .. 1362
G/A
rs201864311
-
CDS
Nonsynonymous[Gly340Arg]
1388 .. 1388
G/A
rs144529989
-
CDS
Synonymous[Leu348Leu]
1396 .. 1396
A/T
rs61030669
-
CDS
Nonsynonymous[Glu351Val]
1397 .. 1397
G/T
rs4982
+
CDS
Nonsynonymous[Glu351Asp]
1403 .. 1403
C/A
rs142392995
-
CDS
Nonsynonymous[His353Gln]
1405 .. 1405
G/A
rs146561886
-
CDS
Nonsynonymous[Arg354Gln]
1537 .. 1537
C/T
rs145886276
-
CDS
Nonsynonymous[Thr398Met]
1538 .. 1538
G/A
rs139827624
-
CDS
Synonymous[Thr398Thr]
1600 .. 1600
C/T
rs199834771
-
CDS
Nonsynonymous[Thr419Met]
1614 .. 1614
G/A
rs34196785
+
CDS
Nonsynonymous[Val424Met]
1624 .. 1624
A/G
rs150772862
-
CDS
Nonsynonymous[Glu427Gly]
1637 .. 1637
G/A
rs148662450
-
CDS
Synonymous[Pro431Pro]
1699 .. 1699
C/T
rs201022450
-
CDS
Nonsynonymous[Thr452Met]
1700 .. 1700
G/T
rs143711744
-
CDS
Synonymous[Thr452Thr]
1707 .. 1707
A/G
rs17855969
-
CDS
Nonsynonymous[Thr455Ala]
1768 .. 1768
A/G
rs201449367
-
CDS
Nonsynonymous[Lys475Arg]
1790 .. 1790
C/T
rs188058882
-
CDS
Synonymous[Asp482Asp]
1820 .. 1820
G/A
rs34884423
+
CDS
Synonymous[Pro492Pro]
1825 .. 1825
G/A
rs150426440
-
CDS
Nonsynonymous[Arg494His]
1829 .. 1829
C/T
rs199802003
-
CDS
Synonymous[Ile495Ile]
1894 .. 1894
A/G
rs112879637
-
CDS
Nonsynonymous[Lys517Arg]
1901 .. 1901
A/C
rs145174076
-
CDS
Synonymous[Arg519Arg]
1931 .. 1931
G/C
rs115841739
-
CDS
Synonymous[Ala529Ala]
1958 .. 1958
C/T
rs148402316
-
CDS
Synonymous[Ser538Ser]
1967 .. 1967
C/G
rs201133279
-
CDS
Synonymous[Ala541Ala]
1975 .. 1975
G/C
rs149689098
-
CDS
Nonsynonymous[Ser544Thr]
1978 .. 1978
G/T
rs114311724
-
CDS
Nonsynonymous[Arg545Leu]
2032 .. 2032
C/T
rs186003276
-
CDS
Nonsynonymous[Ser563Leu]
2108 .. 2108
C/A
rs182684280
-
3'UTR
2195 .. 2195
C/G
rs141640910
-
3'UTR
2249 .. 2249
C/T
rs79008423
-
3'UTR
2422 .. 2422
T/C
rs191262178
-
3'UTR
2449 .. 2449
C/G
rs73937000
-
3'UTR
2522 .. 2522
G/C
rs147970409
-
3'UTR
2537 .. 2537
C/T
rs186416318
-
3'UTR
2594 .. 2594
C/G
rs11677026
-
3'UTR
2655 .. 2655
T/A
rs60199172
-
3'UTR
2882 .. 2882
G/A
rs181643366
-
3'UTR
2913 .. 2913
C/G
rs144841702
-
3'UTR
2968 .. 2968
G/A
rs149443844
-
3'UTR
3093 .. 3093
G/A
rs116545672
-
3'UTR
3196 .. 3196
G/A
rs74957339
-
3'UTR
3244 .. 3244
G/T
rs78324245
-
3'UTR
3285 .. 3285
G/A
rs139011150
-
3'UTR
3290 .. 3290
G/A
rs145128349
-
3'UTR
3409 .. 3409
C/T
rs188892835
-
3'UTR
3414 .. 3414
G/A
rs75139347
-
3'UTR
3528 .. 3528
G/C
rs142936633
-
3'UTR
3575 .. 3575
G/A
rs41310966
+
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
MIRc
2120
2178
+
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;