ENST00000551160.5 BEST3

Information
Transcript ID
ENST00000551160.5
Genome
hg19
Position
chr12:70,078,188-70,093,175
Strand
-
CDS length
219
Amino acid length
73
Gene symbol
BEST3
Gene type
protein-coding
Gene description
bestrophin 3
Gene Entrez Gene ID
144453
Variants

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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
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Target data :
MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
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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
4 70,078,188 70,078,388
3 70,087,454 70,087,687
2 70,088,150 70,088,244
1 70,092,985 70,093,175
CDS
Exon number Type Start Stop
4 CDS 70,078,333 70,078,388
3 CDS 70,087,454 70,087,616
Other genome
Genome Chromosome Start End Links
hg38 chr12 69,684,408 69,699,395 Link
CDS sequence
ATGTTCCTCATCTCTAGCAGTGTTCACGGAAGCGACGAGCACGGGCGCCTGCTTAGAAGGACGCTGATGCGCTACGTCAATCTCACCTCCCTGCTCATCTTTCGCTCGGTGAGCACTGCTGTGTACAAAAGATTTCCCACAATGGACCACGTGGTTGAAGCAGAAAGAACTGGCATGAAACCCATTCTGCCTTCAAGTTTTGAGATGCAGAGCTTTTAG
Amino sequence
MFLISSSVHGSDEHGRLLRRTLMRYVNLTSLLIFRSVSTAVYKRFPTMDHVVEAERTGMKPILPSSFEMQSF*