KEGG   Homo sapiens (human): 54903Help
Entry
54903             CDS       T01001                                 

Gene name
MKS1, BBS13, MES, MKS, POC12
Definition
Meckel syndrome, type 1
Organism
hsa  Homo sapiens (human)
Disease
H00261  
Meckel syndrome (MKS)
H00418  
Bardet-Biedl syndrome (BBS)
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
17q22
AA seq 549 aa AA seqDB search
MAVPVSSFAQRTRSRFRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEE
DEEEEIVIGWQEKLFSQFEVDLYQNETACQSPLDYQYRQEILKLENSGGKKNRRIFTYTD
SDRYTNLEEHCQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSRIVTWEPSEEF
VRNNHVINTPLQTMHIMADLGPYKKLGYKKYEHVLCTLKVDSNGVITVKPDFTGLKGPYR
IETEGEKQELWKYTIDNVSPHAQPEEEERERRVFKDLYGRHKEYLSSLVGTDFEMTVPGA
LRLFVNGEVVSAQGYEYDNLYVHFFVELPTAHWSSPAFQQLSGVTQTCTTKSLAMDKVAH
FSYPFTFEAFFLHEDESSDALPEWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLT
VSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGERLSRFGLRTETTGTVTFRL
HCLQQSRAFMESSSLQKRMRSVLDRLEGFSQQSSIHNVLEAFRRARRRMQEARESLPQDL
VSPSGTLVS
NT seq 1650 nt NT seq  +upstreamnt  +downstreamnt
atggctgtgccagtttcctcatttgcacagcgcacgaggtcccgctttcgagtccacctg
caaagaatcacatcaagcaactttcttcattatcagcctgctgccgagctcgggaaggac
ctcatagacttggccacttttaggcctcagccaactgccagtggacaccgcccagaggaa
gacgaagaggaggagattgtgattgggtggcaggagaagctctttagccagtttgaagta
gatctgtaccaaaatgaaacagcctgtcagagtcctttggattatcagtaccgtcaggag
atcctgaagctggagaattcgggtggcaagaaaaaccgacgaatctttacctacactgac
tctgatagatacaccaatttggaggagcactgtcagagaatgaccactgcagccagcgag
gtgccttcattcttggtcgagcgaatggcaaatgtcaggcgtcgccggcaggacaggcga
gggatggagggcggcatcctcaagtcacgcatcgtcacctgggagccctcagaagagttt
gtcaggaacaaccacgtcattaacacccctcttcagacaatgcacatcatggcagacctg
gggccctataaaaagcttggctataagaagtatgaacatgtcctgtgtactctgaaggtg
gatagcaatggtgtgatcacagtaaagcctgacttcacgggcctcaaaggaccctacagg
attgagacggagggggagaagcaggagctgtggaaatatacgatcgacaatgtttccccc
cacgcacagccggaggaggaggagcgggaacggcgagtgttcaaggatctttatggccgg
cacaaggagtatctcagcagcctcgtaggcaccgactttgagatgactgtcccaggtgcc
ctccggctctttgtaaatggagaggtcgtttcagcccaaggctatgagtatgacaatctc
tacgtccacttctttgtagaattgccaactgctcactggtcaagcccagcattccagcag
ctctcaggagtaacacagacctgcaccaccaagtccctggcaatggacaaggtggctcac
ttctcctacccattcacgtttgaagccttcttcctccatgaggatgaatcttctgatgca
ctcccggagtggcctgtgctctactgtgaggtcctctcgctggacttctggcagaggtac
cgtgtggaaggctatggggctgtggtgctgcctgccactccaggctcacacaccctgaca
gtctccacgtggagacctgtggagcttggcacggtggctgagctgaggaggtttttcatt
ggcggttctctggaactggaggacctctcctatgtacggataccaggatccttcaagggg
gaacgcctgagccgctttggactccgcacagagaccacaggcactgtcaccttccgcttg
cactgtctgcagcagtccagggccttcatggaatcgagctcccttcagaaaaggatgcgg
agtgtgttggaccgtctggaagggttcagccagcagagttccattcacaatgtgctagag
gccttccgtcgagcccggcgccgcatgcaggaggcccgggaaagcctcccgcaggaccta
gtgagcccctctggaaccctggtctcctag

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