ENST00000399246.3 SLC4A1
Information
- Transcript ID
- ENST00000399246.3
- Genome
- hg38
- Position
- chr17:44,248,390-44,268,134
- Strand
- -
- CDS length
- 1,638
- Amino acid length
- 546
- Gene symbol
- SLC4A1
- Gene type
- protein-coding
- Gene description
- solute carrier family 4 member 1 (Diego blood group)
- Gene Entrez Gene ID
- 6521
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 |
|---|---|---|
| 15 | 44,248,390 | 44,250,538 |
| 14 | 44,251,159 | 44,251,332 |
| 13 | 44,251,419 | 44,251,588 |
| 12 | 44,253,118 | 44,253,371 |
| 11 | 44,254,496 | 44,254,662 |
| 10 | 44,255,207 | 44,255,221 |
| 9 | 44,259,262 | 44,259,344 |
| 8 | 44,259,497 | 44,259,581 |
| 7 | 44,259,809 | 44,259,932 |
| 6 | 44,260,404 | 44,260,539 |
| 5 | 44,260,635 | 44,260,815 |
| 4 | 44,261,575 | 44,261,636 |
| 3 | 44,262,636 | 44,262,726 |
| 2 | 44,262,852 | 44,262,934 |
| 1 | 44,268,054 | 44,268,134 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 15 | CDS | 44,250,458 | 44,250,538 |
| 14 | CDS | 44,251,159 | 44,251,332 |
| 13 | CDS | 44,251,419 | 44,251,588 |
| 12 | CDS | 44,253,118 | 44,253,371 |
| 11 | CDS | 44,254,496 | 44,254,662 |
| 10 | CDS | 44,255,207 | 44,255,221 |
| 9 | CDS | 44,259,262 | 44,259,344 |
| 8 | CDS | 44,259,497 | 44,259,581 |
| 7 | CDS | 44,259,809 | 44,259,932 |
| 6 | CDS | 44,260,404 | 44,260,539 |
| 5 | CDS | 44,260,635 | 44,260,815 |
| 4 | CDS | 44,261,575 | 44,261,636 |
| 3 | CDS | 44,262,636 | 44,262,726 |
| 2 | CDS | 44,262,852 | 44,262,866 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr17 | 42,325,758 | 42,345,502 | Link |
CDS sequence
ATGGAGGAGCTGCAGGATGATTATGAAGACATGATGGAGGAGAATCTGGAGCAGGAGGAATATGAAGACCCAGACATCCCCGAGTCCCAGATGGAGGAGCCGGCAGCTCACGACACCGAGGCAACAGCCACAGACTACCACACCACATCACACCCGGGTACCCACAAGGTCTATGTGGAGCTGCAGGAGCTGGTGATGGACGAAAAGAACCAGGAGCTGAGATGGATGGAGGCGGCGCGCTGGGTGCAACTGGAGGAGAACCTGGGGGAGAATGGGGCCTGGGGCCGCCCGCACCTCTCTCACCTCACCTTCTGGAGCCTCCTAGAGCTGCGTAGAGTCTTCACCAAGGGTACTGTCCTCCTAGACCTGCAAGAGACCTCCCTGGCTGGAGTGGCCAACCAACTGCTAGACAGGTTTATCTTTGAAGACCAGATCCGGCCTCAGGACCGAGAGGAGCTGCTCCGGGCCCTGCTGCTTAAACACAGCCACGCTGGAGAGCTGGAGGCCCTGGGGGGTGTGAAGCCTGCAGTCCTGACACGCTCTGGGGATCCTTCACAGCCTCTGCTCCCCCAACACTCCTCACTGGAGACACAGCTCTTCTGTGAGCAGGGAGATGGGGGCACAGAAGGGCACTCACCATCTGGAATTCTGGAAAAGATTCCCCCGGATTCAGAGGCCACGTTGGTGCTAGTGGGCCGCGCCGACTTCCTGGAGCAGCCGGTGCTGGGCTTCGTGAGGCTGCAGGAGGCAGCGGAGCTGGAGGCGGTGGAGCTGCCGGATACCTACACCCAGAAACTCTCGGTGCCTGATGGCTTCAAGGTGTCCAACTCCTCAGCCCGGGGCTGGGTCATCCACCCACTGGGCTTGCGTTCCGAGTTTCCCATCTGGATGATGTTTGCCTCCGCCCTGCCTGCTCTGCTGGTCTTCATCCTCATATTCCTGGAGTCTCAGATCACCACGCTGATTGTCAGCAAACCTGAGCGCAAGATGGTCAAGGGCTCCGGCTTCCACCTGGACCTGCTGCTGGTAGTAGGCATGGGTGGGGTGGCCGCCCTCTTTGGGATGCCCTGGCTCAGTGCCACCACCGTGCGTTCCGTCACCCATGCCAACGCCCTCACTGTCATGGGCAAAGCCAGCACCCCAGGGGCTGCAGCCCAGATCCAGGAGGTCAAAGAGCAGCGGATCAGTGGACTCCTGGTCGCTGTGCTTGTGGGCCTGTCCATCCTCATGGAGCCCATCCTGTCCCGCATCCCCCTGGCTGTACTGTTTGGCATCTTCCTCTACATGGGGGTCACGTCGCTCAGCGGCATCCAGCTCTTTGACCGCATCTTGCTTCTGTTCAAGCCACCCAAGTATCACCCAGATGTGCCCTACGTCAAGCGGGTGAAGACCTGGCGCATGCACTTATTCACGGGCATCCAGATCATCTGCCTGGCAGTGCTGTGGGTGGTGAAGTCCACGCCGGCCTCCCTGGCCCTGCCCTTCGTCCTCATCCTCACTGTGCCGCTGCGGCGCGTCCTGCTGCCGCTCATCTTCAGGAACGTGGAGCTTCAGTGTCTGGATGCTGATGATGCCAAGGCAACCTTTGATGAGGAGGAAGGTCGGGATGAATACGACGAAGTGGCCATGCCTGTGTGA
Amino sequence
MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVELQELVMDEKNQELRWMEAARWVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLKHSHAGELEALGGVKPAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSEATLVLVGRADFLEQPVLGFVRLQEAAELEAVELPDTYTQKLSVPDGFKVSNSSARGWVIHPLGLRSEFPIWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFGMPWLSATTVRSVTHANALTVMGKASTPGAAAQIQEVKEQRISGLLVAVLVGLSILMEPILSRIPLAVLFGIFLYMGVTSLSGIQLFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQIICLAVLWVVKSTPASLALPFVLILTVPLRRVLLPLIFRNVELQCLDADDAKATFDEEEGRDEYDEVAMPV*