CMAS cytidine monophosphate N-acetylneuraminic acid synthetase
Information
- Symbol
- CMAS
- Type
- protein-coding
- Description
- cytidine monophosphate N-acetylneuraminic acid synthetase
- Entrez Gene ID
- 55907
- Genome
- hg19
- Position
- chr12:22,199,152-22,218,602
- Genome
- hg38
- Position
- chr12:22,046,218-22,065,668
- MIM
- 603316 OMIM
- HGNC
- HGNC:18290 HGNC
- Ensembl
- ENSG00000111726 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 6 |
Uncertain significance | 0 | 28 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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36 |
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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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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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
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 | CSS |
MIM | 603316 OMIM |
HGNC | HGNC:18290 HGNC |
Ensembl | ENSG00000111726 Ensembl |
AllianceGenome | HGNC:18290 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000229329.7 | hg38 | chr12 | 22,046,218 | 22,065,668 | 19,451 |
ENST00000229329.7 | hg19 | chr12 | 22,199,152 | 22,218,602 | 19,451 |
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