MSeqDR Central Portal

MSeqDR Data Summary for the Term ASPH:
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsEnsembl Gene IDEnsembl Transcript IDEnsembl Protein IDDescriptionChrGene StartGene EndStrandBandTranscript Start bpTranscript End bpAssociated Gene NameAssociated Transcript NameAssociated Gene DBAssociated Transcript DBTranscript countpct GC contentGene BiotypeTranscript BiotypeSource GeneSource TranscriptStatus geneStatus transcript EntrezGene IDHGNC IDHGNC SymbolRefSeq mRNASeq region id
ENSG00000198363 MSeqDR Search EnsemblASPH000ENSG00000198363ENST00000522603ENSP00000436188aspartate beta-hydroxylase [Source:HGNC Symbol;Acc:757]86241311662627155-1q12.36257769962602345ASPHASPH-004HGNC SymbolHGNC transcript name3038.16protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN444757ASPHNM_03246727523


MSeqDR Master Exome Data Set M1: 634 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1862413200T+AAACENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRNA------het1
2862413200T-AAACENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRrs148273510------hom24
3862413200T-AAACENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRrs148273510------het189
4862413200T-AAAENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRNA------het1
5862413202A+ACAGENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRNA------het1
6862413220TCENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRrs45077560.09853-----het118
7862413220TCENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRrs45077560.09853-----hom3
8862413242TGENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRrs736850690.0229-----het2
9862413307TGENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRrs736850700.0115-lod=12:235---het9
10862413307TGENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRrs736850700.0115-lod=12:235---hom2
11862413565AGENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRrs1137109710.0426-----het8
12862413627T+CAAAENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRrs200531883------het2
13862413698T+AACENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRNA------het8
14862413698T+AACENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRNA------hom2
15862413756C-ATAGATAGGTAAGAGAAENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRNA------het13
16862413838C+AAENST00000379454ENSG000001983636241311662627155ENSP00000368767ASPH-1ASPH_HUMAN--3'_UTRNA--lod=32:340---het1
17862413838C+AAENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRNA--lod=32:340---het1
18862413954TCENST00000379454ENSG000001983636241311662627155ENSP00000368767ASPH-1ASPH_HUMAN--3'_UTRNA------het1
19862413954TCENST00000541428ENSG000001983636241311662627155ENSP00000437864ASPH-1---3'_UTRNA------het1
20862414345ACENST00000379454ENSG000001983636241311662627155ENSP00000368767ASPH-1ASPH_HUMAN--3'_UTRrs1173015460.01379-----het20
** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

As MSeqDR registered user , your accessible protected data set after login:



Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.
  


       Transcripts and variants in the surrounding ASPH 8:62413116..62627155 region Gbrowse