RGD:12849899 Rat Genome Database

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Variant: RGD:12849899 -  Homo sapiens

RGD ID: 12849899
RS ID: rs115298124
ClinVar ID: CV363995
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-10  TSPEAR  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 46,057,636
GRCh38 21 44,637,719
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033806.1:g.78860A>T
NC_000021.9:g.44637719T>A
NC_000021.8:g.46057636T>A
NP_859016.1:p.Val101Glu
More...
06/29/2016 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TSPEAR
Accession:NM_001272037
Location:5UTRS;INTRON

Gene Symbol:KRTAP10-10
Accession:NM_181688
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSICSSACTDSWRVVDCPESCCEPCCCAPAPSLTLVCTPVSCVSSPCCQTACEPSACQSGYTSSCTTPCYQQSSC
QPDCCTSSPCQQACCVPVCCVPVCCVPVCNKPVCFVPTCSESSPSCCQQSSCQPTCCTSSPCQQACCVPVCSKSVCYVPV
CSGASTSCCQQSSCQPACCTASCCRPSSSVSLLCHPVCKSTCCVPVPSCGASASSCQPSCCRTASCVSLLCRPVCSRPAC
YSLCSGQKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000438143 CLINVAR
dbSNP (RS) rs115298124 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene KRTAP10-10 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR