RGD:15130390 Rat Genome Database

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Variant: RGD:15130390 -  Homo sapiens

RGD ID: 15130390
RS ID: rs751588445
ClinVar ID: CV749770
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DSE  TSPYL1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 116,600,640
GRCh38 6 116,279,477
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1184:g.30307G>A
NM_001322937.2:c.-54+20510G>A
NM_001322938.2:c.-54+20510G>A
NM_001374522.1:c.-54+20510G>A
More... 		05/08/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DSE
Accession:NM_001322937
Location:5UTRS;INTRON

Gene Symbol:DSE
Accession:NM_001322940
Location:5UTRS;INTRON

Gene Symbol:DSE
Accession:NM_001322938
Location:5UTRS;INTRON

Gene Symbol:DSE
Accession:NM_001374520
Location:5UTRS;INTRON

Gene Symbol:DSE
Accession:NM_001374521
Location:5UTRS;INTRON

Gene Symbol:DSE
Accession:NM_001374522
Location:5UTRS;INTRON

Gene Symbol:TSPYL1
Accession:NM_003309
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGLDGVKRTTPLQTHSIIISDQVPSDQDAHQYLRLRDQSEATQVMAEPGEGGSETVALPPPPPSEEGGVPQDAAGRGGT
PQIRVVGGRGHVAIKAGQEEGQPPAEGLAAASVVMAAERSLKKGVQGGEKALEICGAQRSASELTAGAEAEAEEVKTGKC
ATVSAAVAERESAEVVKEGLAEKEVMEEQMEVEEQPPEGEEIEVAEEDRLEEEAREEEGPWPLHEALRMDPLEAIQLELD
TVNAQADRAFQQLEHKFGRMRRHYLERRNYIIQNIPGFWMTAFRNHPQLSAMIRGQDAEMLRYITNLEVKELRHPRTGCK
FKFFFRRNPYFRNKLIVKEYEVRSSGRVVSLSTPIIWRRGHEPQSFIRRNQDLICSFFTWFSDHSLPESDKIAEIIKEDL
WPNPLQYYLLREGVRRARRRPLREPVEIPRPFGFQSG*

Gene Symbol:DSE
Accession:NM_001080976
Location:INTRON

Gene Symbol:DSE
Accession:NM_013352
Location:INTRON

Gene Symbol:DSE
Accession:NM_001322939
Location:INTRON

Gene Symbol:DSE
Accession:NM_001322944
Location:INTRON

Gene Symbol:DSE
Accession:NM_001322943
Location:INTRON

Gene Symbol:DSE
Accession:NM_001322941
Location:INTRON

Gene Symbol:DSE
Accession:NR_136520
Location:INTRON;NON-CODING

Gene Symbol:DSE
Accession:NR_136524
Location:INTRON;NON-CODING

Gene Symbol:DSE
Accession:NR_136523
Location:INTRON;NON-CODING

Gene Symbol:DSE
Accession:NR_136522
Location:INTRON;NON-CODING

Gene Symbol:DSE
Accession:NR_136521
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000920000 CLINVAR
dbSNP (RS) rs751588445 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DSE CLINVAR
  LOC129997035 CLINVAR
  TSPYL1 CLINVAR
OMIM 604714 CLINVAR
  605942 CLINVAR