ENST00000494073.5 SH2D1A

Information
Transcript ID
ENST00000494073.5
Genome
hg38
Position
chrX:124,346,589-124,371,488
Strand
+
CDS length
189
Amino acid length
63
Gene symbol
SH2D1A
Gene type
protein-coding
Gene description
SH2 domain containing 1A
Gene Entrez Gene ID
4068
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
1 124,346,589 124,346,779
2 124,370,231 124,370,320
3 124,371,351 124,371,488
CDS
Exon number Type Start Stop
1 CDS 124,346,643 124,346,779
2 CDS 124,370,231 124,370,282
Other genome
Genome Chromosome Start End Links
hg19 chrX 123,480,439 123,505,338 Link
CDS sequence
ATGGACGCAGTGGCTGTGTATCATGGCAAAATCAGCAGGGAAACCGGCGAGAAGCTCCTGCTTGCCACTGGGCTGGATGGCAGCTATTTGCTGAGGGACAGCGAGAGCGTGCCAGGCGTGTACTGCCTATGTGTGCTCATTTCAGAAGCCAGATCAAGGCATTGTAATACCTCTGCAGTATCCAGTTGA
Amino sequence
MDAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLISEARSRHCNTSAVSS*