ENST00000331471.8 BEST3

Information
Transcript ID
ENST00000331471.8
Genome
hg19
Position
chr12:70,037,334-70,093,141
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
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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 70,037,334 70,037,567
9 70,065,208 70,065,359
8 70,066,665 70,066,745
7 70,070,696 70,070,848
6 70,070,960 70,071,037
5 70,072,519 70,072,673
4 70,087,454 70,087,687
3 70,088,150 70,088,244
2 70,091,427 70,091,593
1 70,092,985 70,093,141
CDS
Exon number Type Start Stop
10 CDS 70,037,471 70,037,567
9 CDS 70,065,208 70,065,359
8 CDS 70,066,665 70,066,745
7 CDS 70,070,696 70,070,848
6 CDS 70,070,960 70,071,037
5 CDS 70,072,519 70,072,673
4 CDS 70,087,454 70,087,687
3 CDS 70,088,150 70,088,244
2 CDS 70,091,427 70,091,578
Other genome
Genome Chromosome Start End Links
hg38 chr12 69,643,554 69,699,361 Link
CDS sequence
ATGACTGTCACTTACTCCAGTAAAGTAGCAAATGCAACTTTTTTTGGATTTCATAGGTTACTCCTCAAGTGGAGAGGCAGCATCTACAAACTACTGTACAGGGAATTTATTGTTTTTGCTGTTCTTTATACAGCAATAAGTTTGGTATACAGATTGTTACTTACAGGAGTCCAAAAACGTTACTTTGAAAAATTATCAATTTACTGTGACAGATATGCTGAACAAATTCCAGTAACCTTTGTGCTTGGGTTTTATGTTACTCTGGTAGTGAACCGATGGTGGAACCAGTTTGTGAATTTGCCCTGGCCAGACAGGCTAATGTTCCTCATCTCTAGCAGTGTTCACGGAAGCGACGAGCACGGGCGCCTGCTTAGAAGGACGCTGATGCGCTACGTCAATCTCACCTCCCTGCTCATCTTTCGCTCGGTGAGCACTGCTGTGTACAAAAGATTTCCCACAATGGACCACGTGGTTGAAGCAGGTTTTATGACAACAGATGAAAGGAAATTATTCAACCACCTCAAGTCTCCTCATCTGAAATATTGGGTTCCATTCATCTGGTTTGGAAATCTTGCAACTAAAGCCCGGAATGAAGGTAGAATCAGAGACAGTGTTGATCTGCAATCATTGATGACTGAAATGAATCGATACCGCTCTTGGTGCAGCCTCTTATTCGGTTATGACTGGGTTGGGATTCCGCTGGTTTACACCCAGGTTGTCACTCTTGCTGTCTATACCTTCTTCTTTGCGTGCCTGATTGGACGCCAGTTTTTGGATCCCACCAAAGGCTACGCAGGGCATGACTTGGATCTTTACATTCCCATCTTCACCCTCCTACAATTCTTCTTCTATGCAGGATGGCTTAAGGTAGCAGAGCAGCTTATCAACCCTTTTGGAGAAGATGATGATGATTTTGAAACTAACTGGTGCATTGACAGAAATTTGCAGGTCTCTCTTTTAGCTGTGGACGAAATGCACATGAGCTTACCCAAGATGAAGAAGGACATTTACTGGGACGATTCTGCTGCTCGCCCACCATACACATTGGCAGCTGCTGACTACTGCATACCCTCATTTCTGGGGTCAACAGTCCAGATGGGGAAACAGATGCCTAAGAATGAGTGGAAGATGGAAGATATAAAAATCCCACTCCCTCAGCCTCAATTCCAGTGTGCTAAGAGTGATCCTGGTGGTTAA
Amino sequence
MTVTYSSKVANATFFGFHRLLLKWRGSIYKLLYREFIVFAVLYTAISLVYRLLLTGVQKRYFEKLSIYCDRYAEQIPVTFVLGFYVTLVVNRWWNQFVNLPWPDRLMFLISSSVHGSDEHGRLLRRTLMRYVNLTSLLIFRSVSTAVYKRFPTMDHVVEAGFMTTDERKLFNHLKSPHLKYWVPFIWFGNLATKARNEGRIRDSVDLQSLMTEMNRYRSWCSLLFGYDWVGIPLVYTQVVTLAVYTFFFACLIGRQFLDPTKGYAGHDLDLYIPIFTLLQFFFYAGWLKVAEQLINPFGEDDDDFETNWCIDRNLQVSLLAVDEMHMSLPKMKKDIYWDDSAARPPYTLAAADYCIPSFLGSTVQMGKQMPKNEWKMEDIKIPLPQPQFQCAKSDPGG*