ENST00000650064.2 BBS10

Information
Transcript ID
ENST00000650064.2
Genome
hg19
Position
chr12:76,738,254-76,742,195
Strand
-
CDS length
2,172
Amino acid length
724
Gene symbol
BBS10
Gene type
protein-coding
Gene description
Bardet-Biedl syndrome 10
Gene Entrez Gene ID
79738
Variants

Display target variant


Search Word
Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
2 76,738,254 76,741,567
1 76,741,942 76,742,195
CDS
Exon number Type Start Stop
2 CDS 76,739,593 76,741,567
1 CDS 76,741,942 76,742,138
Other genome
Genome Chromosome Start End Links
hg38 chr12 76,344,474 76,348,415 Link
CDS sequence
ATGTTAAGTTCTATGGCCGCTGCAGGGTCTGTGAAGGCGGCGTTGCAGGTGGCCGAGGTGCTGGAAGCCATCGTGAGCTGCTGCGTGGGGCCCGAGGGACGGCAAGTTTTGTGTACGAAGCCCACTGGCGAGGTGCTTCTCAGCCGGAATGGAGGCCGCCTCCTGGAGGCGCTACACTTAGAGCATCCCATAGCCAGGATGATAGTGGACTGTGTTTCCAGTCATCTCAAAAAAACAGGAGATGGTGCAAAAACATTTATTATCTTTCTTTGCCATTTGCTTAGAGGACTTCATGCAATCACAGACAGAGAAAAGGATCCTTTGATGTGTGAAAACATTCAAACCCATGGAAGGCATTGGAAAAATTGTTCTCGGTGGAAATTTATTTCCCAGGCTCTCCTAACGTTTCAGACACAAATATTAGACGGTATTATGGACCAGTACCTAAGTAGACACTTTTTGTCTATCTTTTCGTCTGCTAAAGAGAGAACATTGTGTAGGAGCTCTTTAGAGTTGCTCTTAGAAGCATACTTTTGTGGAAGAGTGGGAAGAAATAATCATAAATTTATTTCACAGTTGATGTGTGACTACTTTTTCAAGTGTATGACTTGTAAAAGTGGGATTGGTGTATTTGAGTTAGTGGATGACCATTTTGTAGAGTTGAATGTTGGTGTCACTGGCCTTCCTGTTTCAGATTCCAGGATCATAGCTGGTCTTGTGCTTCAGAAAGATTTTTCTGTGTACCGCCCAGCAGATGGTGACATGCGAATGGTGATAGTAACAGAAACCATTCAGCCTCTTTTTTCCACTTCTGGATCAGAGTTTATTCTAAATTCAGAAGCACAGTTTCAGACATCTCAATTTTGGATTATGGAAAAGACAAAAGCAATAATGAAACATCTACATAGTCAGAATGTAAAATTGCTCATATCTAGTGTGAAACAACCAGATTTAGTTAGTTATTATGCAGGGGTGAATGGCATATCAGTGGTTGAGTGTTTATCATCAGAAGAAGTTTCTCTTATCCGGAGGATCATTGGTCTTTCTCCATTTGTACCACCACAGGCCTTTTCGCAGTGTGAAATACCTAACACTGCTTTGGTGAAATTTTGTAAACCTCTTATCCTTAGATCCAAAAGATATGTTCATCTAGGCTTGATAAGCACATGTGCATTTATACCACACTCTATAGTTCTTTGTGGACCAGTGCATGGTCTCATTGAACAACATGAGGATGCTTTACATGGAGCACTTAAAATGCTTCGGCAATTATTTAAAGACCTTGATCTAAATTACATGACACAAACCAATGACCAAAATGGCACTTCAAGTCTTTTTATTTATAAGAACAGTGGAGAAAGTTATCAAGCACCAGATCCTGGTAATGGCTCAATACAAAGGCCTTATCAGGACACAGTTGCAGAGAACAAAGATGCATTGGAAAAAACTCAAACATATTTAAAAGTACATTCTAATTTGGTAATTCCAGATGTAGAATTAGAAACATATATTCCGTATTCAACCCCCACACTGACACCAACAGATACATTCCAAACAGTTGAAACGCTGACATGTTTGTCTTTGGAAAGAAACAGGCTAACTGATTATTATGAACCATTACTCAAGAACAATTCCACTGCTTATTCAACAAGGGGAAATAGAATAGAAATTTCTTACGAAAATTTACAGGTCACAAATATTACTAGAAAGGGAAGCATGTTACCAGTGAGCTGTAAGTTACCGAATATGGGTACTTCCCAGAGTTACCTTTCCTCATCTATGCCAGCTGGTTGTGTTTTGCCAGTAGGTGGTAATTTTGAGATCTTGTTACATTACTATCTTCTCAATTATGCCAAAAAATGCCATCAATCAGAAGAAACCATGGTTAGTATGATAATAGCTAATGCACTTTTAGGCATTCCCAAAGTCCTTTATAAATCTAAAACAGGAAAGTACAGCTTTCCACATACATATATAAGAGCTGTCCATGCACTGCAAACCAATCAACCCTTGGTAAGCAGTCAGACAGGTTTGGAATCAGTAATGGGTAAATACCAGCTACTAACTTCAGTTCTTCAGTGTTTGACAAAAATATTAACCATTGACATGGTAATCACTGTTAAGAGACACCCTCAGAAAGTTCACAATCAAGATTCAGAAGATGAACTATAA
Amino sequence
MLSSMAAAGSVKAALQVAEVLEAIVSCCVGPEGRQVLCTKPTGEVLLSRNGGRLLEALHLEHPIARMIVDCVSSHLKKTGDGAKTFIIFLCHLLRGLHAITDREKDPLMCENIQTHGRHWKNCSRWKFISQALLTFQTQILDGIMDQYLSRHFLSIFSSAKERTLCRSSLELLLEAYFCGRVGRNNHKFISQLMCDYFFKCMTCKSGIGVFELVDDHFVELNVGVTGLPVSDSRIIAGLVLQKDFSVYRPADGDMRMVIVTETIQPLFSTSGSEFILNSEAQFQTSQFWIMEKTKAIMKHLHSQNVKLLISSVKQPDLVSYYAGVNGISVVECLSSEEVSLIRRIIGLSPFVPPQAFSQCEIPNTALVKFCKPLILRSKRYVHLGLISTCAFIPHSIVLCGPVHGLIEQHEDALHGALKMLRQLFKDLDLNYMTQTNDQNGTSSLFIYKNSGESYQAPDPGNGSIQRPYQDTVAENKDALEKTQTYLKVHSNLVIPDVELETYIPYSTPTLTPTDTFQTVETLTCLSLERNRLTDYYEPLLKNNSTAYSTRGNRIEISYENLQVTNITRKGSMLPVSCKLPNMGTSQSYLSSSMPAGCVLPVGGNFEILLHYYLLNYAKKCHQSEETMVSMIIANALLGIPKVLYKSKTGKYSFPHTYIRAVHALQTNQPLVSSQTGLESVMGKYQLLTSVLQCLTKILTIDMVITVKRHPQKVHNQDSEDEL*