ENST00000698116.1 SH2D1A

Information
Transcript ID
ENST00000698116.1
Genome
hg19
Position
chrX:123,480,266-123,507,001
Strand
+
CDS length
387
Amino acid length
129
Gene symbol
SH2D1A
Gene type
protein-coding
Gene description
SH2 domain containing 1A
Gene Entrez Gene ID
4068
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
1 123,480,266 123,480,336
2 123,480,435 123,480,629
3 123,499,611 123,499,674
4 123,504,026 123,504,170
5 123,505,201 123,507,001
CDS
Exon number Type Start Stop
2 CDS 123,480,493 123,480,629
3 CDS 123,499,611 123,499,674
4 CDS 123,504,026 123,504,170
5 CDS 123,505,201 123,505,241
Other genome
Genome Chromosome Start End Links
hg38 chrX 124,346,416 124,373,151 Link
CDS sequence
ATGGACGCAGTGGCTGTGTATCATGGCAAAATCAGCAGGGAAACCGGCGAGAAGCTCCTGCTTGCCACTGGGCTGGATGGCAGCTATTTGCTGAGGGACAGCGAGAGCGTGCCAGGCGTGTACTGCCTATGTGTGCTGTATCACGGTTACATTTATACATACCGAGTGTCCCAGACAGAAACAGGTTCTTGGAGTGCTGAGACAGCACCTGGGGTACATAAAAGATATTTCCGGAAAATAAAAAATCTCATTTCAGCATTTCAGAAGCCAGATCAAGGCATTGTAATACCTCTGCAGTATCCAGTTGAGAAGAAGTCCTCAGCTAGAAGTACACAAGGTACTACAGGGATAAGAGAAGATCCTGATGTCTGCCTGAAAGCCCCATGA
Amino sequence
MDAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKIKNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIREDPDVCLKAP*