ENST00000399246.3 SLC4A1

Information
Transcript ID
ENST00000399246.3
Genome
hg19
Position
chr17:42,325,758-42,345,502
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
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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
Search Word
Target data :
MGeND data only
Category :
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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
Search Word
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
15 42,325,758 42,327,906
14 42,328,527 42,328,700
13 42,328,787 42,328,956
12 42,330,486 42,330,739
11 42,331,864 42,332,030
10 42,332,575 42,332,589
9 42,336,630 42,336,712
8 42,336,865 42,336,949
7 42,337,177 42,337,300
6 42,337,772 42,337,907
5 42,338,003 42,338,183
4 42,338,943 42,339,004
3 42,340,004 42,340,094
2 42,340,220 42,340,302
1 42,345,422 42,345,502
CDS
Exon number Type Start Stop
15 CDS 42,327,826 42,327,906
14 CDS 42,328,527 42,328,700
13 CDS 42,328,787 42,328,956
12 CDS 42,330,486 42,330,739
11 CDS 42,331,864 42,332,030
10 CDS 42,332,575 42,332,589
9 CDS 42,336,630 42,336,712
8 CDS 42,336,865 42,336,949
7 CDS 42,337,177 42,337,300
6 CDS 42,337,772 42,337,907
5 CDS 42,338,003 42,338,183
4 CDS 42,338,943 42,339,004
3 CDS 42,340,004 42,340,094
2 CDS 42,340,220 42,340,234
Other genome
Genome Chromosome Start End Links
hg38 chr17 44,248,390 44,268,134 Link
CDS sequence
ATGGAGGAGCTGCAGGATGATTATGAAGACATGATGGAGGAGAATCTGGAGCAGGAGGAATATGAAGACCCAGACATCCCCGAGTCCCAGATGGAGGAGCCGGCAGCTCACGACACCGAGGCAACAGCCACAGACTACCACACCACATCACACCCGGGTACCCACAAGGTCTATGTGGAGCTGCAGGAGCTGGTGATGGACGAAAAGAACCAGGAGCTGAGATGGATGGAGGCGGCGCGCTGGGTGCAACTGGAGGAGAACCTGGGGGAGAATGGGGCCTGGGGCCGCCCGCACCTCTCTCACCTCACCTTCTGGAGCCTCCTAGAGCTGCGTAGAGTCTTCACCAAGGGTACTGTCCTCCTAGACCTGCAAGAGACCTCCCTGGCTGGAGTGGCCAACCAACTGCTAGACAGGTTTATCTTTGAAGACCAGATCCGGCCTCAGGACCGAGAGGAGCTGCTCCGGGCCCTGCTGCTTAAACACAGCCACGCTGGAGAGCTGGAGGCCCTGGGGGGTGTGAAGCCTGCAGTCCTGACACGCTCTGGGGATCCTTCACAGCCTCTGCTCCCCCAACACTCCTCACTGGAGACACAGCTCTTCTGTGAGCAGGGAGATGGGGGCACAGAAGGGCACTCACCATCTGGAATTCTGGAAAAGATTCCCCCGGATTCAGAGGCCACGTTGGTGCTAGTGGGCCGCGCCGACTTCCTGGAGCAGCCGGTGCTGGGCTTCGTGAGGCTGCAGGAGGCAGCGGAGCTGGAGGCGGTGGAGCTGCCGGATACCTACACCCAGAAACTCTCGGTGCCTGATGGCTTCAAGGTGTCCAACTCCTCAGCCCGGGGCTGGGTCATCCACCCACTGGGCTTGCGTTCCGAGTTTCCCATCTGGATGATGTTTGCCTCCGCCCTGCCTGCTCTGCTGGTCTTCATCCTCATATTCCTGGAGTCTCAGATCACCACGCTGATTGTCAGCAAACCTGAGCGCAAGATGGTCAAGGGCTCCGGCTTCCACCTGGACCTGCTGCTGGTAGTAGGCATGGGTGGGGTGGCCGCCCTCTTTGGGATGCCCTGGCTCAGTGCCACCACCGTGCGTTCCGTCACCCATGCCAACGCCCTCACTGTCATGGGCAAAGCCAGCACCCCAGGGGCTGCAGCCCAGATCCAGGAGGTCAAAGAGCAGCGGATCAGTGGACTCCTGGTCGCTGTGCTTGTGGGCCTGTCCATCCTCATGGAGCCCATCCTGTCCCGCATCCCCCTGGCTGTACTGTTTGGCATCTTCCTCTACATGGGGGTCACGTCGCTCAGCGGCATCCAGCTCTTTGACCGCATCTTGCTTCTGTTCAAGCCACCCAAGTATCACCCAGATGTGCCCTACGTCAAGCGGGTGAAGACCTGGCGCATGCACTTATTCACGGGCATCCAGATCATCTGCCTGGCAGTGCTGTGGGTGGTGAAGTCCACGCCGGCCTCCCTGGCCCTGCCCTTCGTCCTCATCCTCACTGTGCCGCTGCGGCGCGTCCTGCTGCCGCTCATCTTCAGGAACGTGGAGCTTCAGTGTCTGGATGCTGATGATGCCAAGGCAACCTTTGATGAGGAGGAAGGTCGGGATGAATACGACGAAGTGGCCATGCCTGTGTGA
Amino sequence
MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVELQELVMDEKNQELRWMEAARWVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLKHSHAGELEALGGVKPAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSEATLVLVGRADFLEQPVLGFVRLQEAAELEAVELPDTYTQKLSVPDGFKVSNSSARGWVIHPLGLRSEFPIWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFGMPWLSATTVRSVTHANALTVMGKASTPGAAAQIQEVKEQRISGLLVAVLVGLSILMEPILSRIPLAVLFGIFLYMGVTSLSGIQLFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQIICLAVLWVVKSTPASLALPFVLILTVPLRRVLLPLIFRNVELQCLDADDAKATFDEEEGRDEYDEVAMPV*