SNRPD2 small nuclear ribonucleoprotein D2 polypeptide
Information
- Symbol
- SNRPD2
- Type
- protein-coding
- Description
- small nuclear ribonucleoprotein D2 polypeptide
- Entrez Gene ID
- 6633
- Genome
- hg19
- Position
- chr19:46,190,721-46,195,574
- Genome
- hg38
- Position
- chr19:45,687,463-45,692,316
- MIM
- 601061 OMIM
- HGNC
- HGNC:11159 HGNC
- Ensembl
- ENSG00000125743 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 6 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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6 |
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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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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 | SMD2 |
SYNONYM | SNRPD1 |
SYNONYM | Sm-D2 |
MIM | 601061 OMIM |
HGNC | HGNC:11159 HGNC |
Ensembl | ENSG00000125743 Ensembl |
AllianceGenome | HGNC:11159 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000391932.7 | hg38 | chr19 | 45,687,463 | 45,691,941 | 4,479 |
ENST00000342669.8 | hg38 | chr19 | 45,687,460 | 45,691,953 | 4,494 |
ENST00000588301.5 | hg38 | chr19 | 45,687,463 | 45,692,316 | 4,854 |
ENST00000588599.5 | hg38 | chr19 | 45,687,463 | 45,691,771 | 4,309 |
ENST00000585392.2 | hg38 | chr19 | 45,687,460 | 45,691,917 | 4,458 |
ENST00000590212.1 | hg38 | chr19 | 45,687,511 | 45,691,917 | 4,407 |
ENST00000587367.5 | hg38 | chr19 | 45,687,462 | 45,691,940 | 4,479 |
ENST00000585392.2 | hg19 | chr19 | 46,190,718 | 46,195,175 | 4,458 |
ENST00000342669.8 | hg19 | chr19 | 46,190,718 | 46,195,211 | 4,494 |
ENST00000587367.5 | hg19 | chr19 | 46,190,720 | 46,195,198 | 4,479 |
ENST00000588599.5 | hg19 | chr19 | 46,190,721 | 46,195,029 | 4,309 |
ENST00000391932.7 | hg19 | chr19 | 46,190,721 | 46,195,199 | 4,479 |
ENST00000588301.5 | hg19 | chr19 | 46,190,721 | 46,195,574 | 4,854 |
ENST00000590212.1 | hg19 | chr19 | 46,190,769 | 46,195,175 | 4,407 |
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