NOSTRIN nitric oxide synthase trafficking
Information
- Symbol
- NOSTRIN
- Type
- protein-coding
- Description
- nitric oxide synthase trafficking
- Entrez Gene ID
- 115677
- Genome
- hg19
- Position
- chr2:169,643,049-169,721,565
- Genome
- hg38
- Position
- chr2:168,786,539-168,865,055
- MIM
- 607496 OMIM
- HGNC
- HGNC:20203 HGNC
- Ensembl
- ENSG00000163072 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 2 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 28 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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34 |
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0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
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 | |||||
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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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | DaIP2 |
MIM | 607496 OMIM |
HGNC | HGNC:20203 HGNC |
Ensembl | ENSG00000163072 Ensembl |
AllianceGenome | HGNC:20203 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000458381.6 | hg38 | chr2 | 168,786,539 | 168,865,055 | 78,517 |
ENST00000317647.12 | hg38 | chr2 | 168,802,637 | 168,865,514 | 62,878 |
ENST00000397209.6 | hg38 | chr2 | 168,802,647 | 168,864,970 | 62,324 |
ENST00000397206.6 | hg38 | chr2 | 168,802,636 | 168,864,970 | 62,335 |
ENST00000445023.6 | hg38 | chr2 | 168,802,597 | 168,865,054 | 62,458 |
ENST00000444448.6 | hg38 | chr2 | 168,798,151 | 168,865,339 | 67,189 |
ENST00000458381.6 | hg19 | chr2 | 169,643,049 | 169,721,565 | 78,517 |
ENST00000444448.6 | hg19 | chr2 | 169,654,661 | 169,721,849 | 67,189 |
ENST00000445023.6 | hg19 | chr2 | 169,659,107 | 169,721,564 | 62,458 |
ENST00000397206.6 | hg19 | chr2 | 169,659,146 | 169,721,480 | 62,335 |
ENST00000317647.12 | hg19 | chr2 | 169,659,147 | 169,722,024 | 62,878 |
ENST00000397209.6 | hg19 | chr2 | 169,659,157 | 169,721,480 | 62,324 |
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