ENST00000379984.4 RS1

Information
Transcript ID
ENST00000379984.4
Genome
hg38
Position
chrX:18,639,688-18,672,108
Strand
-
CDS length
675
Amino acid length
225
Gene symbol
RS1
Gene type
protein-coding
Gene description
retinoschisin 1
Gene Entrez Gene ID
6247
Variants

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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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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
6 18,639,688 18,642,156
5 18,644,430 18,644,625
4 18,647,191 18,647,332
3 18,656,653 18,656,758
2 18,657,640 18,657,665
1 18,672,017 18,672,108
CDS
Exon number Type Start Stop
6 CDS 18,642,004 18,642,156
5 CDS 18,644,430 18,644,625
4 CDS 18,647,191 18,647,332
3 CDS 18,656,653 18,656,758
2 CDS 18,657,640 18,657,665
1 CDS 18,672,017 18,672,068
Other genome
Genome Chromosome Start End Links
hg19 chrX 18,657,808 18,690,228 Link
CDS sequence
ATGTCACGCAAGATAGAAGGCTTTTTGTTATTACTTCTCTTTGGCTATGAAGCCACATTGGGATTATCGTCTACCGAGGATGAAGGCGAGGACCCCTGGTACCAAAAAGCATGCAAGTGCGATTGCCAAGGAGGACCCAATGCTCTGTGGTCTGCAGGTGCCACCTCCTTGGACTGTATACCAGAATGCCCATATCACAAGCCTCTGGGTTTCGAGTCAGGGGAGGTCACACCGGACCAGATCACCTGCTCTAACCCGGAGCAGTATGTGGGCTGGTATTCTTCGTGGACTGCAAACAAGGCCCGGCTCAACAGTCAAGGCTTTGGGTGTGCCTGGCTCTCCAAGTTCCAGGACAGTAGCCAGTGGTTACAGATAGATCTGAAGGAGATCAAAGTGATTTCAGGGATCCTCACCCAGGGGCGCTGTGACATCGATGAGTGGATGACCAAGTACAGCGTGCAGTACAGGACCGATGAGCGCCTGAACTGGATTTACTACAAGGACCAGACTGGAAACAACCGGGTCTTCTATGGCAACTCGGACCGCACCTCCACGGTTCAGAACCTGCTGCGGCCCCCCATCATCTCCCGCTTCATCCGCCTCATCCCGCTGGGCTGGCACGTCCGCATTGCCATCCGGATGGAGCTGCTGGAGTGCGTCAGCAAGTGTGCCTGA
Amino sequence
MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA*