|
|
| ID |
280 |
| OMIM_ID |
231000
|
| Disease |
GAUCHER DISEASE |
| Gene |
GBA
|
| SNP_ID |
rs3916686
|
| Organism |
human (Homo sapiens) |
| Variation
Class |
SNP:
single nucleotide polymorphism
|
| Alleles |
A/C
|
| Orientation |
fwd/T |
| Chr-Number |
1 |
| SNP
type |
M |
| Length |
1603 |
| 5'
Near Seq 30 bp |
gagacaatgccgctgagcaaggcgtagccc |
| 3'
Near Seq 30 bp |
ccatggctgccagtcctgccagcacagata |
| Fasta
Sequence |
CGGGCACCCC CATTCCATAC CAGGCCTATC ATCTCCTACA TCGGATGGCT TACATCACTC
TACACCACGA GGGAGCAGGA AGGTGTTCAG GGTGGAACCT CGGAAGAGGC ACACCCATCC
CCTTTTGCAC CATGGAGGCA GGAAGTGACT AGGTAGCAAC AGAAAACCCC AATGCCTGAG
GCTGGACTGC GATGCAGAAA AGCAGGGGTC AGTGCCCAGC AGCATGGCTC CAGGCCTAGA
GAGCCAGTGC AGAGCCTCTG CAGGAGTTAT GGGGTGGGTC CGTGGGTGGG TGACTTCTTA
GATGAGGGTT TCATGGGAGG TACCCCGAGG GACTCTGACC ATCTGTTCCC ACATTCAGCA
AGTTCATTCC TGAGGGCTCC CAGAGAGTGG GGCTGGTTGC CAGTCAGAAG AACGACCTGG
ACGCAGTGGC ACTGATGCAT CCCGATGGCT CTGCTGTTGT GGTCGTGCTA AACCGGTGAG
GGCAATGGTG AGGTCTGGGA AGTGGGCTGA AGACAGCGTT GGGGGCCTTG TGCAGGATCA
CACTCTCAGC TTCTCCTCCC TGCTCCCTAG CTCCTCTAAG GATGTGCCTC TTACCATCAA
GGATCCTGCT GTGGGCTTCC TGGAGACAAT CTCACCTGGC TACTCCATTC ACACCTACCT
GTGGCGTCGC CAGTGATGGA GCAGATACTC AAGGAGGCAC TGGGCTCAGC CTGGGCATTA
AAGGGACAGA GTCAGCTCAC ACGCTGTCTG TGACTAAAGA GGGCACAGCA GGGCCAGTGT
GAGCTTACAG CGACGTAAGC CCAGGGGCAA TGGTTTGGGT GACTCACTTT CCCCTCTAGG
TGGTGCCAGG GGCTGGAGGC CCCTAGAAAA AGATCAGTAA GCCCCAGTGT CCCCCCAGCC
CCCATGCTTA TGTGAACATG CGCTGTGTGC TGCTTGCTTT GGAAACTGGG CCTGGGTCCA
GGCCTAGGGT GAGCTCACTG TCCGTACAAA CACAAGATCA GGGCTGAGGG TAAGGAAAAG
AAGAGACTAG GAAAGCTGGG CCCAAAACTG GAGACTGTTT GTCTTTCCTG GAGATGCAGA
ACTGGGCCCG TGGAGCAGCA GTGTCAGCAT CAGGGCGGAA GCCTTAAAGC AGCAGCGGGT
GTGCCCAGGC ACCCAGATGA TTCCTATGGC ACCAGCCAGG AAAAATGGCA GCTCTTAAAG
GAGAAAATGT TTGAGCCCAG TCAGTGTGAG TGGCTTTATT CTGGGTGGCA GCACCCCGTG
TCCGGCTGTA CCAACAACGA GGAGGCACGG GGGCCTCTGG AATGCATGAG AGTAGAAAAA
CCAGTCTTGG GAGCGTGAGG ACAAATCATT CCTCTTCATC CTCCTCAGCC ATGCCCAGGG
TCCGGGTGCC TGGGGCCCGA GCAGGCGTTG CCCGCTGGAT GGAGACAATG CCGCTGAGCA
AGGCGTAGCC C
M
CCATGGCTGC CAGTCCTGCC AGCACAGATA GGATCTGGTT CCGGCGCCGG TATGGCTCCT
CCTCAGTCTC TGGGCCTGCT GGTGTCTGGC GTTGCGGTGG TACCTCAGCT GAGGGTCAAG
GAAGGAAGGT GTGTTAGGAG AACTAGTTCT T
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