ENST00000331471.8 BEST3

Information
Transcript ID
ENST00000331471.8
Genome
hg38
Position
chr12:69,643,554-69,699,361
Strand
-
CDS length
1,197
Amino acid length
399
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
Category :
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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
10 69,643,554 69,643,787
9 69,671,428 69,671,579
8 69,672,885 69,672,965
7 69,676,916 69,677,068
6 69,677,180 69,677,257
5 69,678,739 69,678,893
4 69,693,674 69,693,907
3 69,694,370 69,694,464
2 69,697,647 69,697,813
1 69,699,205 69,699,361
CDS
Exon number Type Start Stop
10 CDS 69,643,691 69,643,787
9 CDS 69,671,428 69,671,579
8 CDS 69,672,885 69,672,965
7 CDS 69,676,916 69,677,068
6 CDS 69,677,180 69,677,257
5 CDS 69,678,739 69,678,893
4 CDS 69,693,674 69,693,907
3 CDS 69,694,370 69,694,464
2 CDS 69,697,647 69,697,798
Other genome
Genome Chromosome Start End Links
hg19 chr12 70,037,334 70,093,141 Link
CDS sequence
ATGACTGTCACTTACTCCAGTAAAGTAGCAAATGCAACTTTTTTTGGATTTCATAGGTTACTCCTCAAGTGGAGAGGCAGCATCTACAAACTACTGTACAGGGAATTTATTGTTTTTGCTGTTCTTTATACAGCAATAAGTTTGGTATACAGATTGTTACTTACAGGAGTCCAAAAACGTTACTTTGAAAAATTATCAATTTACTGTGACAGATATGCTGAACAAATTCCAGTAACCTTTGTGCTTGGGTTTTATGTTACTCTGGTAGTGAACCGATGGTGGAACCAGTTTGTGAATTTGCCCTGGCCAGACAGGCTAATGTTCCTCATCTCTAGCAGTGTTCACGGAAGCGACGAGCACGGGCGCCTGCTTAGAAGGACGCTGATGCGCTACGTCAATCTCACCTCCCTGCTCATCTTTCGCTCGGTGAGCACTGCTGTGTACAAAAGATTTCCCACAATGGACCACGTGGTTGAAGCAGGTTTTATGACAACAGATGAAAGGAAATTATTCAACCACCTCAAGTCTCCTCATCTGAAATATTGGGTTCCATTCATCTGGTTTGGAAATCTTGCAACTAAAGCCCGGAATGAAGGTAGAATCAGAGACAGTGTTGATCTGCAATCATTGATGACTGAAATGAATCGATACCGCTCTTGGTGCAGCCTCTTATTCGGTTATGACTGGGTTGGGATTCCGCTGGTTTACACCCAGGTTGTCACTCTTGCTGTCTATACCTTCTTCTTTGCGTGCCTGATTGGACGCCAGTTTTTGGATCCCACCAAAGGCTACGCAGGGCATGACTTGGATCTTTACATTCCCATCTTCACCCTCCTACAATTCTTCTTCTATGCAGGATGGCTTAAGGTAGCAGAGCAGCTTATCAACCCTTTTGGAGAAGATGATGATGATTTTGAAACTAACTGGTGCATTGACAGAAATTTGCAGGTCTCTCTTTTAGCTGTGGACGAAATGCACATGAGCTTACCCAAGATGAAGAAGGACATTTACTGGGACGATTCTGCTGCTCGCCCACCATACACATTGGCAGCTGCTGACTACTGCATACCCTCATTTCTGGGGTCAACAGTCCAGATGGGGAAACAGATGCCTAAGAATGAGTGGAAGATGGAAGATATAAAAATCCCACTCCCTCAGCCTCAATTCCAGTGTGCTAAGAGTGATCCTGGTGGTTAA
Amino sequence
MTVTYSSKVANATFFGFHRLLLKWRGSIYKLLYREFIVFAVLYTAISLVYRLLLTGVQKRYFEKLSIYCDRYAEQIPVTFVLGFYVTLVVNRWWNQFVNLPWPDRLMFLISSSVHGSDEHGRLLRRTLMRYVNLTSLLIFRSVSTAVYKRFPTMDHVVEAGFMTTDERKLFNHLKSPHLKYWVPFIWFGNLATKARNEGRIRDSVDLQSLMTEMNRYRSWCSLLFGYDWVGIPLVYTQVVTLAVYTFFFACLIGRQFLDPTKGYAGHDLDLYIPIFTLLQFFFYAGWLKVAEQLINPFGEDDDDFETNWCIDRNLQVSLLAVDEMHMSLPKMKKDIYWDDSAARPPYTLAAADYCIPSFLGSTVQMGKQMPKNEWKMEDIKIPLPQPQFQCAKSDPGG*