Mooney Lab Home Publications Research Contact Us
MutDB Position: rs1804679
  SNP InfoAnnotation Info
Functional class:coding-nonsynon dbSNP Source: rs1804679
Wild type nucleotide: G
Wild type amino acid: E
Variant nucleotide: T
Variant amino acid: *
Amino acid position: 547
Chromosome strand orientation: forward
Chromosome variant position: 44185064
Protein mrna accession:NM_000401
Alternate mrna accession:NM_207122
SIFT Score: (help?) Not scored
Sequence
  This sequence was derived from NCBI entry: NM_000401
MCASVKYNIRGPALIPRMKTKHRIYYITLFSIVLLGLIATGMFQFWPHSIESSNDWNVEKRSIRDVPVVR
LPADSPIPERGDLSCRMHTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGVSVSNTISREYNELLMAISDS
DYYTDDINRACLFVPSIDVLNQNTLRIKETAQAMAQLSRWDRGTNHLLFNMLPGGPPDYNTALDVPRDRA
LLAGGGFSTWTYRQGYDVSIPVYSPLSAEVDLPEKGPGPRQYFLLSSQVGLHPEYREDLEALQVKHGESV
LVLDKCTNLSEGVLSVRKRCHKHQVFDYPQVLQEATFCVVLRGARLGQAVLSDVLQAGCVPVVIADSYIL
PFSEVLDWKRASVVVPEEKMSDVYSILQSIPQRQIEEMQRQARWFWEAYFQSIKAIALATLQIINDRIYP
YAAISYEEWNDPPAVKWGSVSNPLFLPLIPPQSQGFTAIVLTYDRVESLFRVITEVSKVPSLSKLLVVWN
NQNKNPPEDSLWPKIRVPLKVVRTAENKLSNRFFPYDEIETEAVLAIDDDIIMLTSD [ E -> * ]
LQFGYEVWREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFYHKYFNYLYTYKMPGDIKN
WVDAHMNCEDIAMNFLVANVTGKAVIKVTPRKKFKCPECTAIDGLSLDQTHMVERSECINKFASVFGTMP
LKVVEHRADPVLYKDDFPEKLKSFPNIGSL
Back: Protein Variant: NM_000401 -> Gene: EXT2 -> Gene Index: E Home
MUTDB
MOONEY LAB TOOLS
OUTSIDE LINKS

         Home     |     Contact     |     Site map
         © 2008 Buck Institute. All Rights Reserved