Mooney Lab Home Publications Research Contact Us
MutDB Position: rs4145579
  SNP InfoAnnotation Info
Functional class:coding-nonsynon dbSNP Source: rs4145579
Wild type nucleotide: C
Wild type amino acid: Y
Variant nucleotide: G
Variant amino acid: *
Amino acid position: 564
Chromosome strand orientation: forward
Chromosome variant position: 20113522
Protein mrna accession:NM_175605
Alternate mrna accession:NM_006531
SIFT Score: (help?) Not scored
Sequence
  This sequence was derived from NCBI entry: NM_175605
MKFTNTKVQMMQNVHLAPETDEDDLYSGYNDYNPIYDIEELENDAAFQQAVRTSHGRRPPITAKISSTAV
TRPIATGYGSKTSLASSIGRPMTGAIQDGVTRPMTAVRAAGFTKAALRGSAFDPLSQSRGPASPLEAKKK
DSPEEKIKQLEKEVNELVEESCIANSCGDLKLALEKAKDAGRKERVLVRQREQVTTPENINLDLTYSVLF
NLASQYSVNEMYAEALNTYQVIVKNKMFSNAGILKMNMGNIYLKQRNYSKAIKFYRMALDQVPSVNKQMR
IKIMQNIGVTFIQAGQYSDAINSYEHIMSMAPNLKAGYNLTICYFAIGDREKMKKAFQKLITVPLEIDED
KYISPSDDPHTNLVTEAIKNDHLRQMERERKAMAEKYIMTSAKLIAPVIETSFAAGYDWCVEVVKASQYV
ELANDLEINKAVTYLRQKDYNQAVEILKVLEKKDSRVKSAAATNLSALYYMGKDFAQASSYADIAVNSDR
YNPAALTNKGNTVFANGDYEKAAEFYKEALRNDSSCTEALYNIGLTYEKLNRLDEALDCFLKLHAILRNS
AEVL [ Y -> * ] QIANIYELMENPSQAIEWLMQVVSVIPTDPQVLSKLGELYDREGDKSQAFQYY
YESYRYFPCNIEVIEWLGAYYIDTQFWEKAIQYFERASLIQPTQVKWQLMVASCFRRSGNYQKALDTYKD
THRKFPENVECLRFLVRLCTDLGLKDAQEYARKLKRLEKMKEIREQRIKSGRDGSGGSRGKREGSASGDS
GQNYSASSKGERLSARLRALPGTNEPYESSSNKEIDASYVDPLGPQIERPKTAAKKRIDEDDFADEELGD
DLLPE
Back: Protein Variant: NM_175605 -> Gene: IFT88 -> Gene Index: I Home
MUTDB
MOONEY LAB TOOLS
OUTSIDE LINKS

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