H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
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H-Invitational ID:
HIT000041571
Accession number:
BC032501
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Steroidogenic factor 1; SF-1; STF-1; Adrenal 4-binding protein; Fushi tarazu factor homolog 1; Nuclear receptor subfamily 5 group A member 1; Steroid hormone receptor Ad4BP;
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
147 .. 147
C/T
rs143242438
-
5'UTR
190 .. 190
G/A
rs121918656
+
CDS
Nonsynonymous[Met1Ile]
198 .. 198
C/T
rs145936761
-
CDS
Nonsynonymous[Ser4Leu]
220 .. 220
G/A
rs142402038
-
CDS
Synonymous[Glu11Glu]
230 .. 230
G/A
rs104894124
+
CDS
Nonsynonymous[Val15Met]
235 .. 235
C/A
rs104894123
+
CDS
AA-STOP[Cys16*]
271 .. 271
C/G
rs139733398
-
CDS
Synonymous[Leu28Leu]
331 .. 331
G/T
rs201827533
-
CDS
Synonymous[Thr48Thr]
351 .. 351
G/A
rs184724257
-
CDS
Nonsynonymous[Cys55Tyr]
412 .. 412
G/C
rs138805488
-
CDS
Synonymous[Thr75Thr]
421 .. 421
G/A
rs104894125
+
CDS
Nonsynonymous[Met78Ile]
433 .. 433
C/T
rs200416930
-
CDS
Synonymous[Ala82Ala]
458 .. 458
G/A
rs104894126
+
CDS
Nonsynonymous[Gly91Ser]
462 .. 462
G/A
rs104894119
+
CDS
Nonsynonymous[Arg92Gln]
478 .. 478
G/A
rs200862223
-
CDS
Synonymous[Pro97Pro]
555 .. 555
G/C
rs200163795
-
CDS
Nonsynonymous[Gly123Ala]
562 .. 562
G/A
rs1110062
-
CDS
Synonymous[Pro125Pro]
573 .. 573
C/T
rs200749741
-
CDS
Nonsynonymous[Pro129Leu]
576 .. 576
C/T
rs201340156
-
CDS
Nonsynonymous[Pro130Leu]
624 .. 624
G/C
rs1110061
-
CDS
Nonsynonymous[Gly146Ala]
703 .. 703
C/T
rs113506523
-
CDS
Synonymous[Ala172Ala]
781 .. 781
G/A
rs142414614
-
CDS
Synonymous[Pro198Pro]
819 .. 819
A/G
rs201548212
-
CDS
Nonsynonymous[Tyr211Cys]
821 .. 821
G/A
rs201095702
-
CDS
Nonsynonymous[Gly212Ser]
826 .. 826
C/A
rs202111164
-
CDS
AA-STOP[Tyr213*]
854 .. 854
G/A
rs74535046
-
CDS
Nonsynonymous[Val223Met]
877 .. 877
G/T
rs111518201
-
CDS
Synonymous[Leu230Leu]
891 .. 891
C/T
rs199761539
-
CDS
Nonsynonymous[Pro235Leu]
951 .. 951
G/T
rs104894118
+
CDS
Nonsynonymous[Arg255Leu]
956 .. 956
G/A
rs141502483
-
CDS
Nonsynonymous[Asp257Asn]
963 .. 963
C/T
rs148356103
-
CDS
Nonsynonymous[Pro259Leu]
974 .. 974
G/A
rs143355429
-
CDS
Nonsynonymous[Gly263Ser]
1045 .. 1045
C/T
rs149583896
-
CDS
Synonymous[Phe286Phe]
1064 .. 1064
G/A
rs121918655
+
CDS
Nonsynonymous[Asp293Asn]
1074 .. 1074
C/T
rs201151141
-
CDS
Nonsynonymous[Thr296Met]
1096 .. 1096
C/T
rs185071408
-
CDS
Synonymous[Ser303Ser]
1099 .. 1099
G/A
rs138439339
-
CDS
Synonymous[Glu304Glu]
1129 .. 1129
G/A
rs201103618
-
CDS
Synonymous[Gln314Gln]
1138 .. 1138
C/T
rs147024762
-
CDS
Synonymous[His317His]
1168 .. 1168
C/T/A
rs141555967
-
CDS
1253 .. 1253
C/T
rs147632907
-
CDS
Synonymous[Leu356Leu]
1287 .. 1287
A/G
rs76323457
-
CDS
Nonsynonymous[Glu367Gly]
1328 .. 1328
T/G
rs200939258
-
CDS
Nonsynonymous[Leu381Val]
1394 .. 1394
G/A
rs150382425
-
CDS
Nonsynonymous[Asp403Asn]
1453 .. 1453
C/T
rs140408680
-
CDS
Synonymous[Cys422Cys]
1467 .. 1467
G/A
rs151191539
-
CDS
Nonsynonymous[Arg427Gln]
1497 .. 1497
T/A
rs104894120
+
CDS
Nonsynonymous[Leu437Gln]
1501 .. 1501
C/T
rs142188133
-
CDS
Synonymous[Tyr438Tyr]
1540 .. 1540
G/A
rs79833327
-
CDS
Synonymous[Leu451Leu]
1566 .. 1566
A/G/C
rs146454575
-
CDS
1655 .. 1655
T/C
rs915034
+
3'UTR
1666 .. 1666
T/G
rs77800186
-
3'UTR
1745 .. 1745
G/A
rs201030479
+
3'UTR
1912 ^ 1913
-/G
rs35584614
-
3'UTR
1936 .. 1936
C/T
rs76802269
-
3'UTR
2218 .. 2218
A/G
rs7875999
-
3'UTR
2236 .. 2236
C/A
rs189362221
-
3'UTR
2261 .. 2261
A/G
rs186051657
-
3'UTR
2281 .. 2281
C/T
rs181417588
-
3'UTR
2391 ^ 2392
-/C
rs35732712
-
3'UTR
2475 .. 2475
T/C
rs10120967
-
3'UTR
2644 .. 2644
G/C
rs189767092
-
3'UTR
2663 .. 2663
C/T
rs151067263
-
3'UTR
2783 .. 2783
G/A
rs114956245
-
3'UTR
2852 .. 2852
G/A
rs183884695
-
3'UTR
2972 .. 2972
C/T
rs10283445
-
3'UTR
2974 ^ 2975
-/A
rs200238202
-
3'UTR
2976 ^ 2977
-/C
rs201696716
-
3'UTR
3081 .. 3081
G/A
rs192171414
-
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
;