SLC4A8 solute carrier family 4 member 8
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 54 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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54 |
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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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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 |
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SYNONYM | NBC3 |
SYNONYM | NDCBE |
MIM | 605024 OMIM |
HGNC | HGNC:11034 HGNC |
Ensembl | ENSG00000050438 Ensembl |
AllianceGenome | HGNC:11034 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000514353.7 | hg38 | chr12 | 51,425,117 | 51,480,610 | 55,494 |
ENST00000358657.7 | hg38 | chr12 | 51,391,317 | 51,515,763 | 124,447 |
ENST00000453097.7 | hg38 | chr12 | 51,424,831 | 51,515,763 | 90,933 |
ENST00000535225.6 | hg38 | chr12 | 51,391,317 | 51,474,575 | 83,259 |
ENST00000358657.7 | hg19 | chr12 | 51,785,101 | 51,909,547 | 124,447 |
ENST00000453097.7 | hg19 | chr12 | 51,818,615 | 51,909,547 | 90,933 |
ENST00000535225.6 | hg19 | chr12 | 51,785,101 | 51,868,359 | 83,259 |
ENST00000514353.7 | hg19 | chr12 | 51,818,901 | 51,874,394 | 55,494 |
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