H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000093427 Accession number: BC034424 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Beta-hexosaminidase subunit alpha; EC=3.2.1.52; Beta-N-acetylhexosaminidase subunit alpha; Hexosaminidase subunit A; N-acetyl-beta-glucosaminidase subunit alpha; Precursor;
 
 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
161 .. 161 C/T rs191290668 + 5'UTR
198 .. 198 G/A rs200180873 + 5'UTR
235 .. 235 C/A/G/T rs4777502 + 5'UTR
242 .. 242 C/T rs121907955 - 5'UTR
243 .. 243 G/A rs28942071 - 5'UTR
257 .. 257 C/T rs121907956 - 5'UTR
258 .. 258 G/A rs121907966 - 5'UTR
263 .. 263 T/C rs147502219 + 5'UTR
300 .. 300 A/G rs121907968 - 5'UTR
309 .. 309 C/T rs121907952 - 5'UTR
310 .. 310 G/A rs140091006 + 5'UTR
318 .. 318 C/T rs145012038 + 5'UTR
331 .. 331 C/G rs121907981 - 5'UTR
356 .. 356 G/A rs149092488 + 5'UTR
400 .. 400 C/T rs2288259 + 5'UTR
457 .. 457 C/T rs182291884 + 5'UTR
483 .. 483 G/A rs143122027 + 5'UTR
568 .. 568 C/T rs8037749 + 5'UTR
694 .. 694 G/A rs186302273 + 5'UTR
827 .. 827 G/C rs74020947 + 5'UTR
831 .. 831 T/C rs57733983 + 5'UTR
834 .. 834 A/C rs189856670 + 5'UTR
891 .. 891 G/A rs140288703 + CDS Nonsynonymous[Gly17Ser]
963 .. 963 G/A rs180761893 + CDS Nonsynonymous[Glu41Lys]
1001 .. 1001 C/G rs185764548 + CDS Synonymous[Pro53Pro]
1002 .. 1002 C/G rs201497629 + CDS Nonsynonymous[Pro54Ala]
1004 .. 1004 G/A rs200757264 + CDS Synonymous[Pro54Pro]
1014 .. 1014 A/G/T rs111680766 + CDS
1015 .. 1015 C/G rs147324677 + CDS Nonsynonymous[Thr58Ser]
1040 .. 1040 T/C rs200936836 + CDS Synonymous[Cys66Cys]
1077 .. 1077 C/T rs121907978 - CDS AA-STOP[Gln79*]
1078 .. 1078 A/G rs113941121 + CDS Nonsynonymous[Gln79Arg]
1086 .. 1086 G/C rs28940871 - CDS Nonsynonymous[Glu82Gln]
1099 .. 1099 A/G rs34085965 + CDS Nonsynonymous[Gln86Arg]
1152 .. 1152 C/T rs2303448 + CDS Nonsynonymous[Pro104Ser]
1332 .. 1332 C/T rs1800431 - 3'UTR
1336 .. 1336 G/C rs202173526 + 3'UTR
1378 .. 1378 C/G rs121907958 - 3'UTR
1385 .. 1385 G/C rs201471936 + 3'UTR
1409 .. 1409 G/A rs151251788 + 3'UTR
1422 .. 1422 G/A rs140482769 + 3'UTR
1443 .. 1443 T/C rs1800430 - 3'UTR
1461 .. 1461 G/A rs121907963 - 3'UTR
1472 .. 1472 A/G rs146714642 + 3'UTR
1659 .. 1659 T/C rs184998038 + 3'UTR
1672 .. 1672 A/G rs151018457 + 3'UTR
1752 .. 1752 C/A rs189331330 + 3'UTR
1802 .. 1802 G/A rs181881350 + 3'UTR
1828 .. 1828 G/A rs112261002 + 3'UTR
1872 .. 1872 C/T rs121907980 - 3'UTR
1873 .. 1873 C/T rs121907954 - 3'UTR
1906 .. 1906 C/G rs121907971 - 3'UTR
1919 .. 1919 C/T rs117513345 + 3'UTR
1929 .. 1929 C/T rs121907959 - 3'UTR
1933 .. 1933 G/A rs138058578 + 3'UTR
1939 .. 1939 G/A rs121907970 - 3'UTR
1969 .. 1969 G/A rs150675340 + 3'UTR
2018 .. 2018 A/G rs75211071 + 3'UTR
2025 ^ 2026 -/T rs34093438 + 3'UTR
2221 .. 2221 G/A rs117879817 + 3'UTR
2299 .. 2299 G/T rs12908883 + 3'UTR
2458 .. 2458 A/C rs117160567 + 3'UTR
2518 .. 2518 C/G rs139948663 + 3'UTR
2528 .. 2528 A/G rs121907974 - 3'UTR
2531 .. 2531 G/A rs121907961 - 3'UTR
2549 .. 2549 T/C rs121907976 - 3'UTR
2562 .. 2562 C/T rs1800429 - 3'UTR
2570 .. 2570 T/G rs121907973 - 3'UTR
2578 .. 2578 C/G/T rs112614306 + 3'UTR
2590 .. 2590 C/A rs185429231 + 3'UTR
2643 .. 2643 T/C rs189451248 + 3'UTR
2984 .. 2984 C/A rs139615426 + 3'UTR
3022 .. 3022 A/G rs181440016 + 3'UTR
3099 .. 3099 G/C rs149732211 + 3'UTR
3130 .. 3130 A/T rs78156639 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Mini-G

 Repeat  Repeat mask viewer
Type Start End Strand
MLT1K 1 167 +
MIRc 726 829 +
MIRc 2151 2377 -
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer