Difference between revisions of "Glucocerebrosidase mapping snps"
(→dbSNP) |
(→dbSNP) |
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Line 532: | Line 532: | ||
All: 296<br/> |
All: 296<br/> |
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Human: 130 |
Human: 130 |
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+ | |||
+ | {| border="1" style="border-spacing:0;" |
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+ | !ID||mutation in sequence||amino acid||position |
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+ | |- |
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+ | |rs121909119||||R||251 |
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+ | |- |
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+ | |rs121908314||||S||251 |
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+ | |- |
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+ | |rs121908313||||M||251 |
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+ | |- |
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+ | |rs121908312||||S||251 |
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+ | |- |
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+ | |rs121908311||||R||251 |
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+ | |- |
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+ | |rs121908310||||K||251 |
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+ | |- |
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+ | |rs121908309||||Y||251 |
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+ | |- |
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+ | |rs121908308||||S||251 |
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+ | |- |
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+ | |rs121908307||||S||251 |
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+ | |- |
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+ | |rs121908306||||K||251 |
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+ | |- |
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+ | |rs121908305||||R||251 |
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+ | |- |
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+ | |rs121908304||||K||251 |
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+ | |- |
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+ | |rs121908303||||K||251 |
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+ | |- |
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+ | |rs121908302||||K||251 |
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+ | |- |
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+ | |rs121908301||||R||251 |
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+ | |- |
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+ | |rs121908300||||Y||251 |
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+ | |- |
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+ | |rs121908299||||Y||251 |
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+ | |- |
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+ | |rs121908298||||Y||251 |
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+ | |- |
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+ | |rs121908297||||M||251 |
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+ | |- |
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+ | |rs121908295||||S||251 |
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+ | |- |
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+ | |rs104886460||||K||251 |
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+ | |- |
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+ | |rs80356773||||R||251 |
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+ | |- |
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+ | |rs80356772||||R||251 |
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+ | |- |
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+ | |rs80356771||||Y||251 |
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+ | |- |
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+ | |rs80356769||||K||251 |
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+ | |- |
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+ | |rs80356768||||N||251 |
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+ | |- |
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+ | |rs80356765||||R||251 |
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+ | |- |
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+ | |rs80356763||||K||251 |
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+ | |- |
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+ | |rs80356760||||N||251 |
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+ | |- |
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+ | |rs80356759||||R||251 |
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+ | |- |
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+ | |rs79653797||||R||251 |
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+ | |- |
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+ | |rs78973108||||Y||251 |
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+ | |- |
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+ | |rs78396650||||Y||251 |
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+ | |- |
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+ | |rs78198234||||R||251 |
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+ | |- |
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+ | |rs77829017||||R||251 |
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+ | |- |
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+ | |rs77369218||||W||251 |
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+ | |- |
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+ | |rs76763715||||B||251 |
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+ | |- |
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+ | |rs76539814||||N||251 |
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+ | |- |
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+ | |rs74598136||||W||251 |
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+ | |- |
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+ | |rs74500255||||Y||251 |
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+ | |- |
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+ | |rs72704130||||R||201 |
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+ | |- |
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+ | |rs71804950||||N||401 |
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+ | |- |
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+ | |rs71702887||||N||401 |
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+ | |- |
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+ | |rs67048649||||N||401 |
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+ | |- |
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+ | |rs66677213||||N||401 |
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+ | |- |
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+ | |rs66539432||||N||401 |
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+ | |- |
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+ | |rs66487775||||N||401 |
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+ | |- |
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+ | |rs61748906||||R||51 |
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+ | |- |
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+ | |rs60482782||||N||501 |
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+ | |- |
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+ | |rs56124445||||M||501 |
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+ | |- |
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+ | |rs41264927||TGAAAACTCCATCCCCTCAGGGTCAT [C/T] AGATGAAGAGAAGACCACAGGGGTT||Y||401 |
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+ | |- |
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+ | |rs41264925||TGTAGGTAAGGGTCACATGTGGGAGA [C/G] GCAGCTGTGGGTAGGTCAGCCCTGT||S||401 |
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+ | |- |
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+ | |rs36024691||CCAAGAAGGCGCCATTACACTCCAGC [-/C] TGGGCGACAGGGCGAGACTCCCTCA||N||301 |
||
+ | |- |
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+ | |rs36024092||TGCCACACCCAGCTAATTTGTGTGTG [-/G] TATGTGTGTGTATGTATGTGTGTGT||N||301 |
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+ | |- |
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+ | |rs35766614||GACGGGCGCCTGTAATCCCAGCTACT [C/T] GGGAGGCTGAGGCAGGAGAATTGCT||Y||301 |
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+ | |- |
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+ | |rs35682967||GTTCCTCCAGTAATTTTTTTTTTTTT [-/T] GGTTTTGAGACAGAGTCTTGCCCTG||N||501 |
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+ | |- |
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+ | |rs35033592||ATCATGCCCAGATAATTTTTTTTTTT [-/T] GTATTTTAGTAGACACAGGGTTTCA||N||301 |
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+ | |- |
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+ | |rs34732744||CGAGCGAGAGAGAGAGAGAGAGAGAG [-/AG] GAGCCGGCGCGAGAACTACGCATGC||N||401 |
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+ | |- |
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+ | |rs34620635||CCTGTGAGGGGCACATTCCTTAGTAG [-/C] TAAGGAGTTGGGGGTGTGAAGATCC||N||301 |
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+ | |- |
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+ | |rs33949225||GCGAGAGAGAGAGAGAGAGAGAGAGG [-/AG] AGCCGGCGCGAGAACTACGCATGCG||N||401 |
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+ | |- |
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+ | |rs28678003||AAGAAGAAAAATAAAAAGAAAGTGGG [C/T] CAGACCGAGAGAACAGGAAGCCTGA||Y||501 |
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+ | |- |
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+ | |rs28559737||AAGGACAAAGGCAAAGAGACAAAGGC [G/T] CAACACTGGGGGTCCCCAGAGAGTG||K||251 |
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+ | |- |
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+ | |rs28373017||TACCTAGTCACTTCCTGCCTCCATGG [C/T] GCAAAAGGGGATGGGTGTGCCTCTT||Y||301 |
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+ | |- |
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+ | |rs12752133||CTCTTCCGAGGTTCCACCCTGAACAC [C/T] TTCCTGCTCCCTCGTGGTGTAGAGT||Y||301 |
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+ | |- |
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+ | |rs12747811||TTCTGACTGGCAACCAGCCCCACTCT [C/T] TGGGAGCCCTCAGGAATGAACTTGC||Y||201 |
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+ | |- |
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+ | |rs12743554||gctcagcctcccaggctggagtgcag [A/T] ggcgcgatctcggctcaccgcaacc||W||501 |
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+ | |- |
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+ | |rs12406363||TGAGTCACACCTGTAATCCCAGCACT [C/T] TGGGAGACCGAGGCAGGCGGATTAC||Y||393 |
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+ | |- |
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+ | |rs12041778||CATGAACCACATCAAATGAGATTTAG [C/T] GGGAGTGGCACACACAGTCATGACC||Y||201 |
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+ | |- |
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+ | |rs12034326||AAGCAGCCCTGGGGAGTCGGGGCGGG [A/G] CCTGGATTGGAAAAGAGACGGTCAC||R||301 |
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+ | |- |
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+ | |rs11558184||CTCCAAGTTCTGGGAGCAGAGTGTGC [A/G] GCTAGGCTCCTGGGATCGAGGGATG||R||51 |
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+ | |- |
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+ | |rs11430678||GTTCCTCCAGTAAttttttttttttt [-/GT] gttttgagacagagtcttgccctgt||N||501 |
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+ | |- |
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+ | |rs11264345||CTAGTACCTTACTTCCCTCAAGTTCA [A/T] TCATCTCACAGATATTTCCTGAGCA||W||201 |
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+ | |- |
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+ | |rs10908459||aattagccgtgcgtggtggcgggtgc [C/T] tgtaatcccacgtacttgggaggct||Y||501 |
||
+ | |- |
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+ | |rs10668496||agcgagagagagagagagagagagag [-/AG] gagCCGGCGCGAGAACTACGCATGC||N||401 |
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+ | |- |
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+ | |rs9628662||TAGTTCCTGTTGTAGGAATCCTGGAG [G/T] TGGGTGACGGGAAGAATGCAACTAG||K||201 |
||
+ | |- |
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+ | |rs7416991||CGTAGCAGTTAGCAGATGATAGGCGG [C/G/T] GAAATCTTATTTCACAGGGCATTAA||B||201 |
||
+ | |- |
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+ | |rs3841430||GGCTCCTCTCTCTCTCTCTCTCTCTC [-/TC] GCTCGCTCTCTCGCTCTCTCGCTCT||N||400 |
||
+ | |- |
||
+ | |rs3754485||GTTTCAGACCAGCCTGGCCAACATAG [C/T] GAAACCCCATCTCTACTAAAAATAA||Y||501 |
||
+ | |- |
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+ | |rs2990228||CAAGTTTCTGATCTTGGGACCTTAAC [A/C] TTCTATGGGACGACACAGATATATA||M||201 |
||
+ | |- |
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+ | |rs2990227||CCGGGCTCCGTGAATGTTTGTCACAT [C/G] TCTGAAGAACGTATGAATTACATAA||S||201 |
||
+ | |- |
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+ | |rs2990226||GAATCCCAACCCCGACGCTCGTCGCC [C/G] GGCTCCGTGAATGTTTGTCACATGT||S||201 |
||
+ | |- |
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+ | |rs2990225||GCGAATCCCAACCCCGACGCTCGTCG [C/T] CGGGCTCCGTGAATGTTTGTCACAT||Y||201 |
||
+ | |- |
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+ | |rs2990224||TGGGCAGAAGTCAGGGTCCAAAGAAA [G/T] GGCAAAGAAAAGTGTcagtggctca||K||201 |
||
+ | |- |
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+ | |rs2974922||GCCCATCCCTGACATTTGGTTCCTGT [C/T] TTAATGCCCTGTGAAATAAGATTTC||Y||201 |
||
+ | |- |
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+ | |rs2974921||tgagccactgACACTTTTCTTTGCCC [A/T] TTCTTTGGACCCTGACTTCTGCCCA||W|201 |
||
+ | |- |
||
+ | |rs2885305||AGAATGAGGAATGACTGAAAAGCAAG [C/T] CCCTCTCCACCCCTCAACTACTCTC||Y||89 |
||
+ | |- |
||
+ | |rs2361535||TTAGCTGCCTTTGGGTGCCCATGGCC [C/T] GGTCTCCCACATTCATTAGGACAAG||Y||152 |
||
+ | |- |
||
+ | |rs2361534||CCCTCTCCACCCCTCAACTACTCTCC [C/T] GGGCAGGGCTTAGCTGCCTTTGGGT||Y||116 |
||
+ | |- |
||
+ | |rs2230289||GATGCAGTACAGCCACAGCATCATCA [C/T] GAACCTCCTGTACCATGTGGTCGGC||Y||151 |
||
+ | |- |
||
+ | |rs2230288||TGGCTCCAGCCAAAGCCACCCTAGGG [A/G] AGACACACCGCCTGTTCCCCAACAC||R||251 |
||
+ | |- |
||
+ | |rs2075569||ATGACATAGAGCCATTGAAACTtttc [A/G] tttttcttttctttttttaaaattt||R||205 |
||
+ | |- |
||
+ | |rs2070679||GGTTGCAGGGAGAGCTGCACCCAGGT [G/T] TCTGTGGGCCTTGTCCTAATGAATG||K||441 |
||
+ | |- |
||
+ | |rs2009578||ggcgccatcttcactcactgtaacct [C/T] tgcctcctgagttcaagcaattctc||Y||302 |
||
+ | |- |
||
+ | |rs1800442||CAGGAGAATCACTCGAACCCAGGAGG [C/T] GGAGGTTGCAGTGAGCCAAGATCAC||Y||501 |
||
+ | |- |
||
+ | |rs1800438||GGggtccagcgcagtggctcatgcct [A/G] taatcccagcactttcggataccaa||R||678 |
||
+ | |- |
||
+ | |rs1158151||taccatctttctatgtgttaatccat [A/G] actccagccttgacctcccatgagc||R||262 |
||
+ | |- |
||
+ | |rs1141826||ATGCAGTACAGCCACAGCATCATCAC [A/G] AACCTCCTGTACCATGTGGTCGGCT||R||51 |
||
+ | |- |
||
+ | |rs1141821||ATGGGGCCCATCCAGGCTAATCACAC [C/G] GGCACAGGCCTGCTACTGACCCTGC||S||101 |
||
+ | |- |
||
+ | |rs1141820||GAGTATGGGGCCCATCCAGGCTAATC [A/G] CACCGGCACAGGCCTGCTACTGACC||R||51 |
||
+ | |- |
||
+ | |rs1141818||TGAGTATGGGGCCCATCCAGGCTAAT [C/T] ACACCGGCACAGGCCTGCTACTGAC||Y||51 |
||
+ | |- |
||
+ | |rs1141816||GGCGATTGGATGGAGCTGAGTATGGG [A/G] CCCATCCAGGCTAATCACACCGGCA||R||51 |
||
+ | |- |
||
+ | |rs1141815||AGTGGGCGATTGGATGGAGCTGAGTA [C/T] GGGGCCCATCCAGGCTAATCACACC||Y||51 |
||
+ | |- |
||
+ | |rs1141814||GCTACAAGAGCACACGCAGTGGGCGA [C/T] TGGATGGAGCTGAGTATGGGGCCCA||Y||101 |
||
+ | |- |
||
+ | |rs1141812||GTACCTTCAGCCGCTACAAGAGCAGA [A/C] GCAGTGGGCGATTGGATGGAGCTGA||M||51 |
||
+ | |- |
||
+ | |rs1141811||TGGTACCTTCAGCCGCTATGAGAGTA [C/G/T] ACGCAGTGGGCGACGGATGGAGCTG||B||61 |
||
+ | |- |
||
+ | |rs1141810||CTTGGTACCTTCAGCCGCTACAAGAG [C/T] AGAAGCAGTGGGCGATTGGATGGAG||Y||51 |
||
+ | |- |
||
+ | |rs1141808||CTGCCCTTGGTACCTTCAGCCGCTAC [A/G] AGAGCACACGCAGTGGGCGATTGGA||R||101 |
||
+ | |- |
||
+ | |rs1141807||CCTGCCCTTGGTACCTTCAGCCGCTA [C/T] AAGAGCACACGCAGTGGGCGATTGG||Y||101 |
||
+ | |- |
||
+ | |rs1141804||CCAGAGAGGAATGTCCCAAGCCTTTG [A/G] GTAGGGTAAGCATCATGGCTGGCAG||R||101 |
||
+ | |- |
||
+ | |rs1141802||TTCCAGAGAGGAATGTCCCAAGCCTT [C/T] GAGTAGGGTAAGCATCATGGCTGGC||Y||101 |
||
+ | |- |
||
+ | |rs1141801||CTTCTCTTCATCTAATGACCCTGAGG [G/T] GATGGAGTTTTCAAGTCCTTCCAGA||K||177 |
||
+ | |- |
||
+ | |rs1135675||CCCGATGGCTCTGCTGTTGTGGTCGT [C/G] CTAAACCGCTCCTCTAAGGATGTGC||S||51 |
||
+ | |- |
||
+ | |rs1064651||GTCCCATCATTGTAGACATCACCAAG [C/G] ACACGTTTTACAAACAGCCCATGTT||S||251 |
||
+ | |- |
||
+ | |rs1064648||CAAAGCCACCCTAGGGGAGACACACC [A/G] CCTGTTCCCCAACACCATGCTCTTT||R||101 |
||
+ | |- |
||
+ | |rs1064647||CCAGAAGCAGCTAAATATGTTCATGG [C/T] ATTGCTGTACATTGGTACCTGGACT||Y||101 |
||
+ | |- |
||
+ | |rs1064646||GTACTGACAGACCCAGAAGCAGCTAA [A/G] TATGTTCATGGCATTGCTGTACATT||R||101 |
||
+ | |- |
||
+ | |rs1064644||CCAATGGAGCGGTGAATGGGAAGGGG [C/T] CACTCAAGGGACAGCCCGGAGACAT||Y||251 |
||
+ | |- |
||
+ | |rs1064640||AACCCCTGTGGTCTTCTCTTCATCTA [A/G] TGACCCTGAGGGGATGGAGTTTTCA||R||165 |
||
+ | |- |
||
+ | |rs1064638||CCTTCAGAGACTCTGGAACCCCTGTG [C/G] TCTTCTCTTCATCTAATGACCCTGA||S||51 |
||
+ | |- |
||
+ | |rs1064637||CAGGGCTAACCTAGTGCCTATAGCTA [A/T] GGCAGGTACCTGCATCCTTGTTTTT||W||51 |
||
+ | |- |
||
+ | |rs1059731||AGCATCATGGCTGGCAGCCTCACAGG [A/T] TTGCTTCTACTTCAGGCAGTGTCGT||W||51 |
||
+ | |- |
||
+ | |rs1057927||GAATTACTTGCAGGGCTAACCTAGTG [A/C] CTATAGCTAAGGCAGGTACCTGCAT||M||51 |
||
+ | |- |
||
+ | |rs762488||gattataggcgcctgccaccaggccc [A/G] gctgatttttctatttttagtagag||R||379 |
||
+ | |- |
||
+ | |rs426516||AGGCCTAGAGAGCCAGTGCAGAGCCT [C/T] TGCAGGAGTTATGGGGTGGGTCCGT||Y||201 |
||
+ | |- |
||
+ | |rs421016||CGGGATGCATCAGTGCCACTGCGTCC [A/C/G/T] GGTCGTTCTTCTGACTGGCAACCAG||N||301 |
||
+ | |- |
||
+ | |rs381737||TCTACCACCAGACCTGGGCCAGATAC [A/T] TTGTGAAGTAAGGGATCAGCAAGGA||W||251 |
||
+ | |- |
||
+ | |rs381427||CACTTGGCTCAAGACCAATGGAGCGG [A/G/T] GAATGGGAAGGGGTCACTCAAGGGA||D||201 |
||
+ | |- |
||
+ | |rs381418||ACATCACCCACTTGGCTCAAGACCAA [G/T] GGAGCGGTGAATGGGAAGGGGTCAC||K||201 |
||
+ | |- |
||
+ | |rs368060||TCACCGGTTTAGGACGACCACAACAG [C/G] AGAGCCATCGGGATGCATCAGTGCC||S||301 |
||
+ | |- |
||
+ | |rs364897||GACATCACCCACTTGGCTCAAGACCA [A/C/G/T] TGGAGCGGTGAATGGGAAGGGGTCA||N||251 |
||
+ | |} |
||
'''Search dbSNP for silent mutations for GBA''' |
'''Search dbSNP for silent mutations for GBA''' |
Revision as of 21:22, 16 June 2011
Contents
General
HGMD
Overview mutations
Mutation type | explanation | Number of mutations |
---|---|---|
Missense/nonsense | codon codes for a different amino acid/premature stop codon | 236 |
Splicing | mutation causes splicing | 13 |
Regulatory | mutation affecting the regulation of gene expression | 0 |
Small deletions | deleted amino acids | 23 |
Small insertions | inserted amino acids | 13 |
Small indels | insertion or deletion (maybe not recognizable) | 2 |
Gross deletions | big deletions | 3 |
Gross insertions/duplications | big insertions or duplicated sequences | 0 |
Complex rearrangements | part of the sequence is placed somewhere else | 13 |
Repeat variations | repeated varied parts of the sequence are placed somewhere else | 0 |
Public total (HGMD Professional 2011.1 total) | 303 (353) |
Missense/nonsense mutations given for GBA
There are given 236 missense/nonsense mutations for GBA:
Codon change | Amino acid change | Codon number |
---|---|---|
AAG-AGG | Lys-Arg | -27 |
TGGg-TGA | Trp-Term | -4 |
cGGC-AGC | Gly-Ser | 10 |
AGC-ATC | Ser-Ile | 12 |
gGTG-ATG | Val-Met | 15 |
gGTG-CTG | Val-Leu | 15 |
TGT-TCT | Cys-Ser | 16 |
tGAC-AAC | Asp-Asn | 24 |
tGGT-AGT | Gly-Ser | 35 |
cTTC-GTC | Phe-Val | 37 |
tGAG-AAG | Glu-Lys | 41 |
AGT-AAT | Ser-Asn | 42 |
ACA-ATA | Thr-Ile | 43 |
GGG-GAG | Gly-Glu | 46 |
gCGA-TGA | Arg-Term | 47 |
aCGG-TGG | Arg-Trp | 48 |
CGG-CAG | Arg-Gln | 48 |
CTA-CCA | Leu-Pro | 66 |
aCAG-TAG | Gln-Term | 73 |
gAAG-TAG | Lys-Term | 74 |
GTG-GCG | Val-Ala | 78 |
AAGg-AAC | Lys-Asn | 79 |
ATG-ACG | Met-Thr | 85 |
tGCT-ACT | Ala-Thr | 90 |
CTT-CGT | Leu-Arg | 105 |
TCG-TTG | Ser-Leu | 107 |
cTTC-GTC | Phe-Val | 109 |
tGAA-AAA | Glu-Lys | 111 |
GGA-GAA | Gly-Glu | 113 |
tAAC-GAC | Asn-Asp | 117 |
ATC-ACC | Ile-Thr | 119 |
ATC-AGC | Ile-Ser | 119 |
cCGG-TGG | Arg-Trp | 120 |
CGG-CAG | Arg-Gln | 120 |
GTA-GCA | Val-Ala | 121 |
aCCC-TCC | Pro-Ser | 122 |
CCC-CTC | Pro-Leu | 122 |
ATG-ACG | Met-Thr | 123 |
cATG-GTG | Met-Val | 123 |
GAC-GTC | Asp-Val | 127 |
cCGC-TGC | Arg-Cys | 131 |
CGC-CTC | Arg-Leu | 131 |
ACC-ATC | Thr-Ile | 134 |
cACC-CCC | Thr-Pro | 134 |
TATg-TAG | Tyr-Term | 135 |
GCA-GAA | Ala-Glu | 136 |
tGAT-CAT | Asp-His | 140 |
GAA-GCA | Glu-Ala | 152 |
AAGa-AAT | Lys-Asn | 157 |
cAAG-CAG | Lys-Gln | 157 |
aCCC-ACC | Pro-Thr | 159 |
CCC-CTC | Pro-Leu | 159 |
ATT-AAT | Ile-Asn | 161 |
ATT-AGT | Ile-Ser | 161 |
CAC-CCC | His-Pro | 162 |
cCGA-TGA | Arg-Term | 163 |
cCAG-TAG | Gln-Term | 169 |
CGT-CCT | Arg-Pro | 170 |
gCGT-TGT | Arg-Cys | 170 |
TCA-TGA | Ser-Term | 173 |
aCTC-TTC | Leu-Phe | 174 |
CTC-CCC | Leu-Pro | 174 |
GCC-GAC | Ala-Asp | 176 |
cCCC-TCC | Pro-Ser | 178 |
TGG-TAG | Trp-Term | 179 |
gACA-CCA | Thr-Pro | 180 |
aCCC-ACC | Pro-Thr | 182 |
CCC-CTC | Pro-Leu | 182 |
tTGG-CGG | Trp-Arg | 184 |
gCTC-TTC | Leu-Phe | 185 |
AAT-AGT | Asn-Ser | 188 |
AATg-AAG | Asn-Lys | 188 |
GGA-GTA | Gly-Val | 189 |
aGCG-ACG | Ala-Thr | 190 |
GCG-GAG | Ala-Glu | 190 |
GTG-GAG | Val-Glu | 191 |
GTG-GGG | Val-Gly | 191 |
GGG-GAG | Gly-Glu | 195 |
gGGG-TGG | Gly-Trp | 195 |
gTCA-CCA | Ser-Pro | 196 |
aCTC-TTC | Leu-Phe | 197 |
CTC-CCC | Leu-Pro | 197 |
AAG-ACG | Lys-Thr | 198 |
cAAG-GAG | Lys-Glu | 198 |
cGGA-AGA | Gly-Arg | 202 |
GGA-GAA | Gly-Glu | 202 |
TAC-TGC | Tyr-Cys | 205 |
cTGG-CGG | Trp-Arg | 209 |
GCC-GTC | Ala-Val | 210 |
aTAC-CAC | Tyr-His | 212 |
cTTT-ATT | Phe-Ile | 213 |
TTT-TGT | Phe-Cys | 213 |
gTTC-GTC | Phe-Val | 216 |
TTC-TAC | Phe-Tyr | 216 |
TAT-TGT | Tyr-Cys | 220 |
ACA-AGA | Thr-Arg | 231 |
GAAa-GAC | Glu-Asp | 233 |
tGAA-TAA | Glu-Term | 233 |
tTCT-CCT | Ser-Pro | 237 |
GGG-GTG | Gly-Val | 239 |
GGA-GTA | Gly-Val | 243 |
aTAC-CAC | Tyr-His | 244 |
CCC-CAC | Pro-His | 245 |
TTCa-TTA | Phe-Leu | 251 |
CATc-CAG | His-Gln | 255 |
CGA-CAA | Arg-Gln | 257 |
gCGA-TGA | Arg-Term | 257 |
TTCa-TTA | Phe-Leu | 259 |
ATT-ACT | Ile-Thr | 260 |
GGT-GAT | Gly-Asp | 265 |
CCT-CGT | Pro-Arg | 266 |
CCT-CTT | Pro-Leu | 266 |
tCCT-GCT | Pro-Ala | 266 |
AGT-AAT | Ser-Asn | 271 |
CTC-CCC | Leu-Pro | 279 |
aCGC-TGC | Arg-Cys | 285 |
CGC-CAC | Arg-His | 285 |
CCC-CTC | Pro-Leu | 289 |
aCTG-TTG | Leu-Leu | 296 |
AAA-ATA | Lys-Ile | 303 |
TAT-TGT | Tyr-Cys | 304 |
TATg-TAG | Tyr-Term | 304 |
tGTT-CTT | Val-Leu | 305 |
GCT-GTT | Ala-Val | 309 |
CAT-CGT | His-Arg | 311 |
TGGt-TGT | Trp-Cys | 312 |
tTGG-CGG | Trp-Arg | 312 |
gTAC-CAC | Tyr-His | 313 |
gGAC-CAC | Asp-His | 315 |
GCT-GAT | Ala-Asp | 318 |
tCCA-GCA | Pro-Ala | 319 |
ACC-ATC | Thr-Ile | 323 |
CTA-CAA | Leu-Gln | 324 |
CTA-CCA | Leu-Pro | 324 |
aGGG-AGG | Gly-Arg | 325 |
aGGG-TGG | Gly-Trp | 325 |
gGAG-AAG | Glu-Lys | 326 |
cCGC-TGC | Arg-Cys | 329 |
TTC-TCC | Phe-Ser | 331 |
CTC-CCC | Leu-Pro | 336 |
gGCC-ACC | Ala-Thr | 341 |
cTGT-CGT | Cys-Arg | 342 |
cTGT-GGT | Cys-Gly | 342 |
TGT-TAT | Cys-Tyr | 342 |
cTGG-GGG | Trp-Gly | 348 |
gGAG-AAG | Glu-Lys | 349 |
gCAG-TAG | Gln-Term | 350 |
tGTG-CTG | Val-Leu | 352 |
gCGG-GGG | Arg-Gly | 353 |
gCGG-TGG | Arg-Trp | 353 |
GGC-GAC | Gly-Asp | 355 |
TCC-TTC | Ser-Phe | 356 |
TGG-TAG | Trp-Term | 357 |
CGA-CAA | Arg-Gln | 359 |
tCGA-TGA | Arg-Term | 359 |
ATGc-ATA | Met-Ile | 361 |
TAC-TGC | Tyr-Cys | 363 |
AGC-AAC | Ser-Asn | 364 |
AGC-ACC | Ser-Thr | 364 |
cAGC-CGC | Ser-Arg | 364 |
AGC-AAC | Ser-Asn | 366 |
AGC-ACC | Ser-Thr | 366 |
cAGC-GGC | Ser-Gly | 366 |
ACG-ATG | Thr-Met | 369 |
AAC-AGC | Asn-Ser | 370 |
AACc-AAA | Asn-Lys | 370 |
cCTC-GTC | Leu-Val | 371 |
tGTG-TTG | Val-Leu | 375 |
cGGC-AGC | Gly-Ser | 377 |
cTGG-GGG | Trp-Gly | 378 |
TGG-TAG | Trp-Term | 378 |
cGAC-AAC | Asp-Asn | 380 |
cGAC-CAC | Asp-His | 380 |
GAC-GCC | Asp-Ala | 380 |
TGG-TAG | Trp-Term | 381 |
AACc-AAA | Asn-Lys | 382 |
CTT-CGT | Leu-Arg | 383 |
CTG-CCG | Leu-Pro | 385 |
CCC-CTC | Pro-Leu | 387 |
cGAA-TAA | Glu-Term | 388 |
GGA-GAA | Gly-Glu | 389 |
aGGA-AGA | Gly-Arg | 390 |
CCC-CTC | Pro-Leu | 391 |
AAT-ATT | Asn-Ile | 392 |
TGG-TTG | Trp-Leu | 393 |
tTGG-AGG | Trp-Arg | 393 |
gGTG-TTG | Val-Leu | 394 |
CGT-CCT | Arg-Pro | 395 |
gCGT-TGT | Arg-Cys | 395 |
AAC-ACC | Asn-Thr | 396 |
TTT-TCT | Phe-Ser | 397 |
tGTC-ATC | Val-Ile | 398 |
tGTC-CTC | Val-Leu | 398 |
tGTC-TTC | Val-Phe | 398 |
cGAC-AAC | Asp-Asn | 399 |
cGAC-TAC | Asp-Tyr | 399 |
CCC-CTC | Pro-Leu | 401 |
ATC-ACC | Ile-Thr | 402 |
cATC-TTC | Ile-Phe | 402 |
GAC-GGC | Asp-Gly | 409 |
GAC-GTC | Asp-Val | 409 |
gGAC-CAC | Asp-His | 409 |
gTTT-ATT | Phe-Ile | 411 |
tTAC-CAC | Tyr-His | 412 |
cAAA-CAA | Lys-Gln | 413 |
aCAG-TAG | Gln-Term | 414 |
CAG-CGG | Gln-Arg | 414 |
CCC-CGC | Pro-Arg | 415 |
cATG-GTG | Met-Val | 416 |
gTTC-GTC | Phe-Val | 417 |
TAC-TGC | Tyr-Cys | 418 |
GGC-GAC | Gly-Asp | 421 |
cAAG-GAG | Lys-Glu | 425 |
AGAg-AGT | Arg-Ser | 433 |
gAGA-GGA | Arg-Gly | 433 |
CTG-CCG | Leu-Pro | 444 |
CTG-CGG | Leu-Arg | 444 |
cGCA-CCA | Ala-Pro | 446 |
CAT-CGT | His-Arg | 451 |
tGCT-CCT | Ala-Pro | 456 |
cGTG-ATG | Val-Met | 460 |
CTA-CCA | Leu-Pro | 461 |
AAC-AGC | Asn-Ser | 462 |
AACc-AAG | Asn-Lys | 462 |
cCGC-TGC | Arg-Cys | 463 |
CGC-CAC | Arg-His | 463 |
CGC-CCC | Arg-Pro | 463 |
gGAT-TAT | Asp-Tyr | 474 |
gGGC-AGC | Gly-Ser | 478 |
CTG-CCG | Leu-Pro | 480 |
cTCC-CCC | Ser-Pro | 488 |
ATT-ACT | Ile-Thr | 489 |
ACC-ATC | Thr-Ile | 491 |
CGC-CAC | Arg-His | 496 |
tCGC-TGC | Arg-Cys | 496 |
CAG-CGG | Gln-Arg | 497 |
Sequence
>sp|P04062|GLCM_HUMAN Glucosylceramidase OS=Homo sapiens GN=GBA PE=1 SV=3
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYES
TRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPM
ASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDI
YHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQR
LLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHS
IITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAV
ALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
Possible missense/nonsense mutations are marked with red.
dbSNP
Search dbSNP for GBA
All: 296
Human: 130
ID | mutation in sequence | amino acid | position |
---|---|---|---|
rs121909119 | R | 251 | |
rs121908314 | S | 251 | |
rs121908313 | M | 251 | |
rs121908312 | S | 251 | |
rs121908311 | R | 251 | |
rs121908310 | K | 251 | |
rs121908309 | Y | 251 | |
rs121908308 | S | 251 | |
rs121908307 | S | 251 | |
rs121908306 | K | 251 | |
rs121908305 | R | 251 | |
rs121908304 | K | 251 | |
rs121908303 | K | 251 | |
rs121908302 | K | 251 | |
rs121908301 | R | 251 | |
rs121908300 | Y | 251 | |
rs121908299 | Y | 251 | |
rs121908298 | Y | 251 | |
rs121908297 | M | 251 | |
rs121908295 | S | 251 | |
rs104886460 | K | 251 | |
rs80356773 | R | 251 | |
rs80356772 | R | 251 | |
rs80356771 | Y | 251 | |
rs80356769 | K | 251 | |
rs80356768 | N | 251 | |
rs80356765 | R | 251 | |
rs80356763 | K | 251 | |
rs80356760 | N | 251 | |
rs80356759 | R | 251 | |
rs79653797 | R | 251 | |
rs78973108 | Y | 251 | |
rs78396650 | Y | 251 | |
rs78198234 | R | 251 | |
rs77829017 | R | 251 | |
rs77369218 | W | 251 | |
rs76763715 | B | 251 | |
rs76539814 | N | 251 | |
rs74598136 | W | 251 | |
rs74500255 | Y | 251 | |
rs72704130 | R | 201 | |
rs71804950 | N | 401 | |
rs71702887 | N | 401 | |
rs67048649 | N | 401 | |
rs66677213 | N | 401 | |
rs66539432 | N | 401 | |
rs66487775 | N | 401 | |
rs61748906 | R | 51 | |
rs60482782 | N | 501 | |
rs56124445 | M | 501 | |
rs41264927 | TGAAAACTCCATCCCCTCAGGGTCAT [C/T] AGATGAAGAGAAGACCACAGGGGTT | Y | 401 |
rs41264925 | TGTAGGTAAGGGTCACATGTGGGAGA [C/G] GCAGCTGTGGGTAGGTCAGCCCTGT | S | 401 |
rs36024691 | CCAAGAAGGCGCCATTACACTCCAGC [-/C] TGGGCGACAGGGCGAGACTCCCTCA | N | 301 |
rs36024092 | TGCCACACCCAGCTAATTTGTGTGTG [-/G] TATGTGTGTGTATGTATGTGTGTGT | N | 301 |
rs35766614 | GACGGGCGCCTGTAATCCCAGCTACT [C/T] GGGAGGCTGAGGCAGGAGAATTGCT | Y | 301 |
rs35682967 | GTTCCTCCAGTAATTTTTTTTTTTTT [-/T] GGTTTTGAGACAGAGTCTTGCCCTG | N | 501 |
rs35033592 | ATCATGCCCAGATAATTTTTTTTTTT [-/T] GTATTTTAGTAGACACAGGGTTTCA | N | 301 |
rs34732744 | CGAGCGAGAGAGAGAGAGAGAGAGAG [-/AG] GAGCCGGCGCGAGAACTACGCATGC | N | 401 |
rs34620635 | CCTGTGAGGGGCACATTCCTTAGTAG [-/C] TAAGGAGTTGGGGGTGTGAAGATCC | N | 301 |
rs33949225 | GCGAGAGAGAGAGAGAGAGAGAGAGG [-/AG] AGCCGGCGCGAGAACTACGCATGCG | N | 401 |
rs28678003 | AAGAAGAAAAATAAAAAGAAAGTGGG [C/T] CAGACCGAGAGAACAGGAAGCCTGA | Y | 501 |
rs28559737 | AAGGACAAAGGCAAAGAGACAAAGGC [G/T] CAACACTGGGGGTCCCCAGAGAGTG | K | 251 |
rs28373017 | TACCTAGTCACTTCCTGCCTCCATGG [C/T] GCAAAAGGGGATGGGTGTGCCTCTT | Y | 301 |
rs12752133 | CTCTTCCGAGGTTCCACCCTGAACAC [C/T] TTCCTGCTCCCTCGTGGTGTAGAGT | Y | 301 |
rs12747811 | TTCTGACTGGCAACCAGCCCCACTCT [C/T] TGGGAGCCCTCAGGAATGAACTTGC | Y | 201 |
rs12743554 | gctcagcctcccaggctggagtgcag [A/T] ggcgcgatctcggctcaccgcaacc | W | 501 |
rs12406363 | TGAGTCACACCTGTAATCCCAGCACT [C/T] TGGGAGACCGAGGCAGGCGGATTAC | Y | 393 |
rs12041778 | CATGAACCACATCAAATGAGATTTAG [C/T] GGGAGTGGCACACACAGTCATGACC | Y | 201 |
rs12034326 | AAGCAGCCCTGGGGAGTCGGGGCGGG [A/G] CCTGGATTGGAAAAGAGACGGTCAC | R | 301 |
rs11558184 | CTCCAAGTTCTGGGAGCAGAGTGTGC [A/G] GCTAGGCTCCTGGGATCGAGGGATG | R | 51 |
rs11430678 | GTTCCTCCAGTAAttttttttttttt [-/GT] gttttgagacagagtcttgccctgt | N | 501 |
rs11264345 | CTAGTACCTTACTTCCCTCAAGTTCA [A/T] TCATCTCACAGATATTTCCTGAGCA | W | 201 |
rs10908459 | aattagccgtgcgtggtggcgggtgc [C/T] tgtaatcccacgtacttgggaggct | Y | 501 |
rs10668496 | agcgagagagagagagagagagagag [-/AG] gagCCGGCGCGAGAACTACGCATGC | N | 401 |
rs9628662 | TAGTTCCTGTTGTAGGAATCCTGGAG [G/T] TGGGTGACGGGAAGAATGCAACTAG | K | 201 |
rs7416991 | CGTAGCAGTTAGCAGATGATAGGCGG [C/G/T] GAAATCTTATTTCACAGGGCATTAA | B | 201 |
rs3841430 | GGCTCCTCTCTCTCTCTCTCTCTCTC [-/TC] GCTCGCTCTCTCGCTCTCTCGCTCT | N | 400 |
rs3754485 | GTTTCAGACCAGCCTGGCCAACATAG [C/T] GAAACCCCATCTCTACTAAAAATAA | Y | 501 |
rs2990228 | CAAGTTTCTGATCTTGGGACCTTAAC [A/C] TTCTATGGGACGACACAGATATATA | M | 201 |
rs2990227 | CCGGGCTCCGTGAATGTTTGTCACAT [C/G] TCTGAAGAACGTATGAATTACATAA | S | 201 |
rs2990226 | GAATCCCAACCCCGACGCTCGTCGCC [C/G] GGCTCCGTGAATGTTTGTCACATGT | S | 201 |
rs2990225 | GCGAATCCCAACCCCGACGCTCGTCG [C/T] CGGGCTCCGTGAATGTTTGTCACAT | Y | 201 |
rs2990224 | TGGGCAGAAGTCAGGGTCCAAAGAAA [G/T] GGCAAAGAAAAGTGTcagtggctca | K | 201 |
rs2974922 | GCCCATCCCTGACATTTGGTTCCTGT [C/T] TTAATGCCCTGTGAAATAAGATTTC | Y | 201 |
rs2974921 | tgagccactgACACTTTTCTTTGCCC [A/T] TTCTTTGGACCCTGACTTCTGCCCA | 201 | |
rs2885305 | AGAATGAGGAATGACTGAAAAGCAAG [C/T] CCCTCTCCACCCCTCAACTACTCTC | Y | 89 |
rs2361535 | TTAGCTGCCTTTGGGTGCCCATGGCC [C/T] GGTCTCCCACATTCATTAGGACAAG | Y | 152 |
rs2361534 | CCCTCTCCACCCCTCAACTACTCTCC [C/T] GGGCAGGGCTTAGCTGCCTTTGGGT | Y | 116 |
rs2230289 | GATGCAGTACAGCCACAGCATCATCA [C/T] GAACCTCCTGTACCATGTGGTCGGC | Y | 151 |
rs2230288 | TGGCTCCAGCCAAAGCCACCCTAGGG [A/G] AGACACACCGCCTGTTCCCCAACAC | R | 251 |
rs2075569 | ATGACATAGAGCCATTGAAACTtttc [A/G] tttttcttttctttttttaaaattt | R | 205 |
rs2070679 | GGTTGCAGGGAGAGCTGCACCCAGGT [G/T] TCTGTGGGCCTTGTCCTAATGAATG | K | 441 |
rs2009578 | ggcgccatcttcactcactgtaacct [C/T] tgcctcctgagttcaagcaattctc | Y | 302 |
rs1800442 | CAGGAGAATCACTCGAACCCAGGAGG [C/T] GGAGGTTGCAGTGAGCCAAGATCAC | Y | 501 |
rs1800438 | GGggtccagcgcagtggctcatgcct [A/G] taatcccagcactttcggataccaa | R | 678 |
rs1158151 | taccatctttctatgtgttaatccat [A/G] actccagccttgacctcccatgagc | R | 262 |
rs1141826 | ATGCAGTACAGCCACAGCATCATCAC [A/G] AACCTCCTGTACCATGTGGTCGGCT | R | 51 |
rs1141821 | ATGGGGCCCATCCAGGCTAATCACAC [C/G] GGCACAGGCCTGCTACTGACCCTGC | S | 101 |
rs1141820 | GAGTATGGGGCCCATCCAGGCTAATC [A/G] CACCGGCACAGGCCTGCTACTGACC | R | 51 |
rs1141818 | TGAGTATGGGGCCCATCCAGGCTAAT [C/T] ACACCGGCACAGGCCTGCTACTGAC | Y | 51 |
rs1141816 | GGCGATTGGATGGAGCTGAGTATGGG [A/G] CCCATCCAGGCTAATCACACCGGCA | R | 51 |
rs1141815 | AGTGGGCGATTGGATGGAGCTGAGTA [C/T] GGGGCCCATCCAGGCTAATCACACC | Y | 51 |
rs1141814 | GCTACAAGAGCACACGCAGTGGGCGA [C/T] TGGATGGAGCTGAGTATGGGGCCCA | Y | 101 |
rs1141812 | GTACCTTCAGCCGCTACAAGAGCAGA [A/C] GCAGTGGGCGATTGGATGGAGCTGA | M | 51 |
rs1141811 | TGGTACCTTCAGCCGCTATGAGAGTA [C/G/T] ACGCAGTGGGCGACGGATGGAGCTG | B | 61 |
rs1141810 | CTTGGTACCTTCAGCCGCTACAAGAG [C/T] AGAAGCAGTGGGCGATTGGATGGAG | Y | 51 |
rs1141808 | CTGCCCTTGGTACCTTCAGCCGCTAC [A/G] AGAGCACACGCAGTGGGCGATTGGA | R | 101 |
rs1141807 | CCTGCCCTTGGTACCTTCAGCCGCTA [C/T] AAGAGCACACGCAGTGGGCGATTGG | Y | 101 |
rs1141804 | CCAGAGAGGAATGTCCCAAGCCTTTG [A/G] GTAGGGTAAGCATCATGGCTGGCAG | R | 101 |
rs1141802 | TTCCAGAGAGGAATGTCCCAAGCCTT [C/T] GAGTAGGGTAAGCATCATGGCTGGC | Y | 101 |
rs1141801 | CTTCTCTTCATCTAATGACCCTGAGG [G/T] GATGGAGTTTTCAAGTCCTTCCAGA | K | 177 |
rs1135675 | CCCGATGGCTCTGCTGTTGTGGTCGT [C/G] CTAAACCGCTCCTCTAAGGATGTGC | S | 51 |
rs1064651 | GTCCCATCATTGTAGACATCACCAAG [C/G] ACACGTTTTACAAACAGCCCATGTT | S | 251 |
rs1064648 | CAAAGCCACCCTAGGGGAGACACACC [A/G] CCTGTTCCCCAACACCATGCTCTTT | R | 101 |
rs1064647 | CCAGAAGCAGCTAAATATGTTCATGG [C/T] ATTGCTGTACATTGGTACCTGGACT | Y | 101 |
rs1064646 | GTACTGACAGACCCAGAAGCAGCTAA [A/G] TATGTTCATGGCATTGCTGTACATT | R | 101 |
rs1064644 | CCAATGGAGCGGTGAATGGGAAGGGG [C/T] CACTCAAGGGACAGCCCGGAGACAT | Y | 251 |
rs1064640 | AACCCCTGTGGTCTTCTCTTCATCTA [A/G] TGACCCTGAGGGGATGGAGTTTTCA | R | 165 |
rs1064638 | CCTTCAGAGACTCTGGAACCCCTGTG [C/G] TCTTCTCTTCATCTAATGACCCTGA | S | 51 |
rs1064637 | CAGGGCTAACCTAGTGCCTATAGCTA [A/T] GGCAGGTACCTGCATCCTTGTTTTT | W | 51 |
rs1059731 | AGCATCATGGCTGGCAGCCTCACAGG [A/T] TTGCTTCTACTTCAGGCAGTGTCGT | W | 51 |
rs1057927 | GAATTACTTGCAGGGCTAACCTAGTG [A/C] CTATAGCTAAGGCAGGTACCTGCAT | M | 51 |
rs762488 | gattataggcgcctgccaccaggccc [A/G] gctgatttttctatttttagtagag | R | 379 |
rs426516 | AGGCCTAGAGAGCCAGTGCAGAGCCT [C/T] TGCAGGAGTTATGGGGTGGGTCCGT | Y | 201 |
rs421016 | CGGGATGCATCAGTGCCACTGCGTCC [A/C/G/T] GGTCGTTCTTCTGACTGGCAACCAG | N | 301 |
rs381737 | TCTACCACCAGACCTGGGCCAGATAC [A/T] TTGTGAAGTAAGGGATCAGCAAGGA | W | 251 |
rs381427 | CACTTGGCTCAAGACCAATGGAGCGG [A/G/T] GAATGGGAAGGGGTCACTCAAGGGA | D | 201 |
rs381418 | ACATCACCCACTTGGCTCAAGACCAA [G/T] GGAGCGGTGAATGGGAAGGGGTCAC | K | 201 |
rs368060 | TCACCGGTTTAGGACGACCACAACAG [C/G] AGAGCCATCGGGATGCATCAGTGCC | S | 301 |
rs364897 | GACATCACCCACTTGGCTCAAGACCA [A/C/G/T] TGGAGCGGTGAATGGGAAGGGGTCA | N | 251 |
Search dbSNP for silent mutations for GBA
All: 24
Human: 10
ID | mutation in sequence | amino acid | position |
---|---|---|---|
rs12747811 | TTCTGACTGGCAACCAGCCCCACTCT [C/T] TGGGAGCCCTCAGGAATGAACTTGC | Y | 201 |
rs17405304 | ATGCAGTACAGCCACAGCATCATCAC [A/G] AACCTCCTGTACCATGTGGTCGGCT | R | 51 |
rs3205635 | ATGCAGTACAGCCACAGCATCATCAC [A/G] AACCTCCTGTACCATGTGGTCGGCT | R | 51 |
rs1141826 | ATGCAGTACAGCCACAGCATCATCAC [A/G] AACCTCCTGTACCATGTGGTCGGCT | R | 51 |
rs17405290 | ATGGGGCCCATCCAGGCTAATCACAC [C/G] GGCACAGGCCTGCTACTGACCCTGC | S | 101 |
rs3205624 | ATGGGGCCCATCCAGGCTAATCACAC [C/G] GGCACAGGCCTGCTACTGACCCTGC | S | 101 |
rs1141821 | ATGGGGCCCATCCAGGCTAATCACAC [C/G] GGCACAGGCCTGCTACTGACCCTGC | S | 101 |
rs3205620 | GGCGATTGGATGGAGCTGAGTATGGG [A/G] CCCATCCAGGCTAATCACACCGGCA | R | 51 |
rs1141816 | GGCGATTGGATGGAGCTGAGTATGGG [A/G] CCCATCCAGGCTAATCACACCGGCA | R | 51 |
rs1141810 | CTTGGTACCTTCAGCCGCTACAAGAG [C/T] AGAAGCAGTGGGCGATTGGATGGAG | Y | 101 |
rs16836764 | CCTGCCCTTGGTACCTTCAGCCGCTA [C/T] AAGAGCACACGCAGTGGGCGATTGG | Y | 101 |
rs3205615 | CCTGCCCTTGGTACCTTCAGCCGCTA [C/T] AAGAGCACACGCAGTGGGCGATTGG | Y | 101 |
rs1141807 | CCTGCCCTTGGTACCTTCAGCCGCTA [C/T] AAGAGCACACGCAGTGGGCGATTGG | Y | 101 |
rs1801473 | CCCGATGGCTCTGCTGTTGTGGTCGT [C/G] CTAAACCGCTCCTCTAAGGATGTGC | S | 51 |
rs3198511 | CCCGATGGCTCTGCTGTTGTGGTCGT [C/G] CTAAACCGCTCCTCTAAGGATGTGC | S | 51 |
rs1135675 | CCCGATGGCTCTGCTGTTGTGGTCGT [C/G] CTAAACCGCTCCTCTAAGGATGTGC | S | 51 |
rs17401379 | CCAGAAGCAGCTAAATATGTTCATGG [C/T] ATTGCTGTACATTGGTACCTGGACT | Y | 101 |
rs3205632 | CCAGAAGCAGCTAAATATGTTCATGG [C/T] ATTGCTGTACATTGGTACCTGGACT | Y | 101 |
rs1064647 | CCAGAAGCAGCTAAATATGTTCATGG [C/T] ATTGCTGTACATTGGTACCTGGACT | Y | 101 |
rs17401372 | GTACTGACAGACCCAGAAGCAGCTAA [A/G] TATGTTCATGGCATTGCTGTACATT | R | 101 |
rs3205631 | GTACTGACAGACCCAGAAGCAGCTAA [A/G] TATGTTCATGGCATTGCTGTACATT | R | 101 |
rs1064646 | GTACTGACAGACCCAGAAGCAGCTAA [A/G] TATGTTCATGGCATTGCTGTACATT | R | 101 |
rs3200534 | AGCATCATGGCTGGCAGCCTCACAGG [A/T] TTGCTTCTACTTCAGGCAGTGTCGT | W | 51 |
rs1059731 | AGCATCATGGCTGGCAGCCTCACAGG [A/T] TTGCTTCTACTTCAGGCAGTGTCGT | W | 51 |