ENST00000476098.5 BEST3
Information
- Transcript ID
- ENST00000476098.5
- Genome
- hg38
- Position
- chr12:69,669,679-69,699,351
- Strand
- -
- CDS length
- 594
- Amino acid length
- 198
- 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
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| Category | : |
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| 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 | : |
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| 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 |
|---|---|---|
| 7 | 69,669,679 | 69,670,578 |
| 6 | 69,671,428 | 69,671,579 |
| 5 | 69,672,885 | 69,672,965 |
| 4 | 69,677,180 | 69,677,257 |
| 3 | 69,678,739 | 69,678,893 |
| 2 | 69,693,729 | 69,693,907 |
| 1 | 69,699,205 | 69,699,351 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 7 | CDS | 69,670,446 | 69,670,578 |
| 6 | CDS | 69,671,428 | 69,671,579 |
| 5 | CDS | 69,672,885 | 69,672,965 |
| 4 | CDS | 69,677,180 | 69,677,257 |
| 3 | CDS | 69,678,739 | 69,678,888 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr12 | 70,063,459 | 70,093,131 | Link |
CDS sequence
ATGACAACAGATGAAAGGAAATTATTCAACCACCTCAAGTCTCCTCATCTGAAATATTGGGTTCCATTCATCTGGTTTGGAAATCTTGCAACTAAAGCCCGGAATGAAGGTAGAATCAGAGACAGTGTTGATCTGCAATCATTGATGACTGAAATGAATCGATACCGCTCTTGGTGCAGCCTCTTATTCGGTTATGACTGGGTTGGGATTCCGCTGGTTTACACCCAGGTAGCAGAGCAGCTTATCAACCCTTTTGGAGAAGATGATGATGATTTTGAAACTAACTGGTGCATTGACAGAAATTTGCAGGTCTCTCTTTTAGCTGTGGACGAAATGCACATGAGCTTACCCAAGATGAAGAAGGACATTTACTGGGACGATTCTGCTGCTCGCCCACCATACACATTGGCAGCTGCTGACTACTGCATACCCTCATTTCTGGGGTCAACAGTCCAGATGGGGAGATCTCGCTTCAACCCTGTTCCCTTTGCCGAATGTCTCCTAATCCCCATCAGTGATGGTTTGTGGCACTTCTCTTCCAAAGGGGCCTCTGAGGCTGAAAACCTTTCCAGACCCAAAGAAAAGGAAGACTGA
Amino sequence
MTTDERKLFNHLKSPHLKYWVPFIWFGNLATKARNEGRIRDSVDLQSLMTEMNRYRSWCSLLFGYDWVGIPLVYTQVAEQLINPFGEDDDDFETNWCIDRNLQVSLLAVDEMHMSLPKMKKDIYWDDSAARPPYTLAAADYCIPSFLGSTVQMGRSRFNPVPFAECLLIPISDGLWHFSSKGASEAENLSRPKEKED*