|
|
| ID |
278 |
| OMIM_ID |
231000
|
| Disease |
GAUCHER DISEASE |
| Gene |
GBA
|
| SNP_ID |
rs2142046
|
| Organism |
human (Homo sapiens) |
| Variation
Class |
SNP:
single nucleotide polymorphism
|
| Alleles |
C/T
|
| Orientation |
fwd/B |
| Chr-Number |
1 |
| SNP
type |
Y |
| Length |
863 |
| 5'
Near Seq 30 bp |
acactcagtgccccacagctcttcaggccc |
| 3'
Near Seq 30 bp |
tcctgtgcctggctgccctcccaccctacc |
| Fasta
Sequence |
AGCTGAGGGT CAAGGAAGGA AGGTGTGTTA GGAGAACTAG TTCTTGGATC CCTGCCCACT
CTCCCCAGGG CTGCCCCTCC CATCTGCCCC TTACCTCCAT CCCAGGGGAA GTAGAGACTG
AGAATGTGGG TACAATAGGC ACAGAGGTTG TGCAGCCCAC GCAGGTGGAC CTGCAGCTTC
CCACTGGGCA GCTTTGCCTG CAGCAGCAGG GCCAAGTAGC TGAAGACGAA GGCGTCCAAG
GAGGCAGGGC TGGAGCAGAG AGAGAAGGGT GGGATGGAGG AGAACCACTG GGGTAGAAGG
GGTAAAGATG GAGCTGGAGG AAGAGTCAGC CTTGGGAGGT GGGCTCTGGG CAGCAGGCGG
CCACCAGGGA AGGACAGGAC ACACAGTTCT AGACCTGGTA TGGGGAGAGA TCCCCAGGTG
GCGCCAGCTG GCCCTGAATA GGGCTCTATC CCAGGGCTGC ATAAAGGGCA CACTCAGTGC
CCCACAGCTC TTCAGGCCC
Y
TCCTGTGCCT GGCTGCCCTC CCACCCTACC CTTTTGTACC TCTGAGAAGG CTCTGGCCCC
ACGCACAGCC CCACTGTCAC CAGGGCCAGT ATCTGTCTCA GGGACCTCCT ATCCAGAGCC
TGAGccagcc ccagccccag ccccagctcc agcTGCTCCA TCTGAACCTG TATCTTCTTC
CAAGCCACCC ATTACCCTCT TGGAGTCAGA CTCACGCATC TCCAAAGAAG AACTTTTGAG
AGCCCAGGCG CTGAGAGAGC AGGGTCAGAC ACTCCCGAGC CTCTCGGTAC AGCTGTAGGG
GCGACACAGG TAGGCTTGCA GCTGCGGGAA CAGTGCCACC TCCGCACCTA AGCACTCCCA
TTC
|
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