ENST00000698116.1 SH2D1A
Information
- Transcript ID
- ENST00000698116.1
- Genome
- hg38
- Position
- chrX:124,346,416-124,373,151
- 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
Display target variant
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| 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 | : |
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| 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 |
|---|---|---|
| 1 | 124,346,416 | 124,346,486 |
| 2 | 124,346,585 | 124,346,779 |
| 3 | 124,365,761 | 124,365,824 |
| 4 | 124,370,176 | 124,370,320 |
| 5 | 124,371,351 | 124,373,151 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 2 | CDS | 124,346,643 | 124,346,779 |
| 3 | CDS | 124,365,761 | 124,365,824 |
| 4 | CDS | 124,370,176 | 124,370,320 |
| 5 | CDS | 124,371,351 | 124,371,391 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chrX | 123,480,266 | 123,507,001 | Link |
CDS sequence
ATGGACGCAGTGGCTGTGTATCATGGCAAAATCAGCAGGGAAACCGGCGAGAAGCTCCTGCTTGCCACTGGGCTGGATGGCAGCTATTTGCTGAGGGACAGCGAGAGCGTGCCAGGCGTGTACTGCCTATGTGTGCTGTATCACGGTTACATTTATACATACCGAGTGTCCCAGACAGAAACAGGTTCTTGGAGTGCTGAGACAGCACCTGGGGTACATAAAAGATATTTCCGGAAAATAAAAAATCTCATTTCAGCATTTCAGAAGCCAGATCAAGGCATTGTAATACCTCTGCAGTATCCAGTTGAGAAGAAGTCCTCAGCTAGAAGTACACAAGGTACTACAGGGATAAGAGAAGATCCTGATGTCTGCCTGAAAGCCCCATGA
Amino sequence
MDAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKIKNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIREDPDVCLKAP*