ENST00000488961.5 BEST3

Information
Transcript ID
ENST00000488961.5
Genome
hg38
Position
chr12:69,653,609-69,689,276
Strand
-
CDS length
1,368
Amino acid length
456
Gene symbol
BEST3
Gene type
protein-coding
Gene description
bestrophin 3
Gene Entrez Gene ID
144453
Variants

Display target variant


Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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
6 69,653,609 69,655,813
5 69,671,428 69,671,579
4 69,672,885 69,672,965
3 69,677,180 69,677,257
2 69,678,739 69,678,893
1 69,689,070 69,689,276
CDS
Exon number Type Start Stop
6 CDS 69,654,907 69,655,813
5 CDS 69,671,428 69,671,579
4 CDS 69,672,885 69,672,965
3 CDS 69,677,180 69,677,257
2 CDS 69,678,739 69,678,888
Other genome
Genome Chromosome Start End Links
hg19 chr12 70,047,389 70,083,056 Link
CDS sequence
ATGACAACAGATGAAAGGAAATTATTCAACCACCTCAAGTCTCCTCATCTGAAATATTGGGTTCCATTCATCTGGTTTGGAAATCTTGCAACTAAAGCCCGGAATGAAGGTAGAATCAGAGACAGTGTTGATCTGCAATCATTGATGACTGAAATGAATCGATACCGCTCTTGGTGCAGCCTCTTATTCGGTTATGACTGGGTTGGGATTCCGCTGGTTTACACCCAGGTAGCAGAGCAGCTTATCAACCCTTTTGGAGAAGATGATGATGATTTTGAAACTAACTGGTGCATTGACAGAAATTTGCAGGTCTCTCTTTTAGCTGTGGACGAAATGCACATGAGCTTACCCAAGATGAAGAAGGACATTTACTGGGACGATTCTGCTGCTCGCCCACCATACACATTGGCAGCTGCTGACTACTGCATACCCTCATTTCTGGGGTCAACAGTCCAGATGGGGCTGTCTGGGTCCGACTTTCCTGACGAGGAGTGGCTGTGGGATTATGAGAAGCATGGCCATCGGCATTCCATGATAAGAAGAGTCAAGCGGTTCCTGAGTGCCCACGAACACCCCTCCAGCCCCAGAAGAAGAAGCTACAGGAGGCAGACAAGTGACAGCTCCATGTTCTTACCCCGAGATGACCTCAGCCCAGCCAGGGACCTACTGGATGTGCCCTCAAGAAACCCCCCCAGGGCCTCACCCACCTGGAAGAAATCCTGCTTCCCAGAAGGAAGCCCCACGCTGCACTTCAGCATGGGAGAGCTGTCCACCATCAGGGAGACCAGCCAGACAAGCACTTTACAGAGCCTGACCCCACAGTCCAGTGTGAGAACTTCCCCCATCAAAATGCCACTGGTACCTGAGGTATTGATCACAGCAGCCGAAGCACCAGTGCCCACATCAGGGGGCTACCACCATGATTCCGCTACCTCCATCTTGAGCTCTGAGTTTACAGGGGTTCAGCCAAGCAAGACTGAGCAGCAGCAGGGCCCCATGGGATCCATCCTGTCTCCCTCAGAGAAGGAGACACCTCCTGGAGGCCCCAGTCCCCAGACAGTTTCAGCCAGCGCTGAGGAAAATATATTCAACTGTGAAGAAGACCCTGGTGATACCTTTCTAAAAAGGTGGAGTCTTCCGGGATTCCTGGGGTCCAGCCACACTTCCCTGGGAAACCTAAGTCCAGACCCCATGAGCTCTCAGCCAGCTCTTTTAATTGACACAGAAACATCCTCAGAGATCAGTGGGATCAACATTGTGGCTGGCTCTCGAGTCTCTTCTGATATGCTGTATTTAATGGAAAACCTGGACACCAAGGAAACAGATATCATAGAGCTGAACAAGGAAACTGAGGAATCACCCAAATGA
Amino sequence
MTTDERKLFNHLKSPHLKYWVPFIWFGNLATKARNEGRIRDSVDLQSLMTEMNRYRSWCSLLFGYDWVGIPLVYTQVAEQLINPFGEDDDDFETNWCIDRNLQVSLLAVDEMHMSLPKMKKDIYWDDSAARPPYTLAAADYCIPSFLGSTVQMGLSGSDFPDEEWLWDYEKHGHRHSMIRRVKRFLSAHEHPSSPRRRSYRRQTSDSSMFLPRDDLSPARDLLDVPSRNPPRASPTWKKSCFPEGSPTLHFSMGELSTIRETSQTSTLQSLTPQSSVRTSPIKMPLVPEVLITAAEAPVPTSGGYHHDSATSILSSEFTGVQPSKTEQQQGPMGSILSPSEKETPPGGPSPQTVSASAEENIFNCEEDPGDTFLKRWSLPGFLGSSHTSLGNLSPDPMSSQPALLIDTETSSEISGINIVAGSRVSSDMLYLMENLDTKETDIIELNKETEESPK*