SNRPD1 small nuclear ribonucleoprotein D1 polypeptide
Information
- Symbol
- SNRPD1
- Type
- protein-coding
- Description
- small nuclear ribonucleoprotein D1 polypeptide
- Entrez Gene ID
- 6632
- Genome
- hg19
- Position
- chr18:19,192,275-19,213,481
- Genome
- hg38
- Position
- chr18:21,612,314-21,633,520
- MIM
- 601063 OMIM
- HGNC
- HGNC:11158 HGNC
- Ensembl
- ENSG00000167088 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 4 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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4 |
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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 |
Search Word
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 | HsT2456 |
SYNONYM | SMD1 |
SYNONYM | SNRPD |
SYNONYM | Sm-D1 |
MIM | 601063 OMIM |
HGNC | HGNC:11158 HGNC |
Ensembl | ENSG00000167088 Ensembl |
AllianceGenome | HGNC:11158 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000582475.1 | hg38 | chr18 | 21,612,331 | 21,629,479 | 17,149 |
ENST00000579618.1 | hg38 | chr18 | 21,612,314 | 21,629,109 | 16,796 |
ENST00000300413.10 | hg38 | chr18 | 21,612,314 | 21,633,520 | 21,207 |
ENST00000579618.1 | hg19 | chr18 | 19,192,275 | 19,209,070 | 16,796 |
ENST00000300413.10 | hg19 | chr18 | 19,192,275 | 19,213,481 | 21,207 |
ENST00000582475.1 | hg19 | chr18 | 19,192,292 | 19,209,440 | 17,149 |
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