RGD:152980228 Rat Genome Database

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Pathways
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Variant: RGD:152980228 -  Homo sapiens

RGD ID: 152980228
RS ID: rs372173836
ClinVar ID: CV1675884
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124905038  TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 45,949,741
GRCh38 21 44,529,858
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.186721C>T
NC_000021.9:g.44529858G>A
NC_000021.8:g.45949741G>A
NM_144991.2:c.730C>T
More... 		05/03/2022 missense variant uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:TSPEAR
Accession:NM_001272037
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSFPASRIFSQCDLFPEEFSIVVTLRVPNLPPKRNEYLLTVVAEESDLLLLGLRLSPAQLHFLFLREDTAGAWQTRVSFR
SPALVDGRWHTLVLAVSAGVFSLTTDCGLPVDIMADVPFPATLSVKGARFFVGSRRRAKGLFMGLVRQLVLLPGSDATPR
LCPSRNAPLAVLSIPWVLQALTGKPEDNEVLKYPYETNIRVTLGPQPPCTEVEDAQFWFDASRKGLYLCVGNEWVSVLAA
KERLDYVEEHQNLSTNSETLGIEVFRIPQVGLFVATANRKATSAVYKWTEEKFVSYQNIPTHQAQAWRHFTIGKKIFLAV
ANFEPDEKGQEFSVIYKWSHRKLKFTPYQSIATHSARDWEAFEVDGEHFLAVANHREGDNHNIDSVIYKWNPATRLFEAN
QTIATSGAYDWEFFSVGPYSFLVVANTFNGTSTKVHSHLYIRLLGSFQLFQSFPTFGAADWEVFQIGERIFLAVANSHSY
DVEMQVQNDSYVINSVIYELNVTAQAFVKFQDILTCSALDWEFFSVGEDYFLVVANSFDGRTFSVNSIIYRWQGYEGFVA
VHSLPTVGCRDWEAFSTTAGAYLIYSSAKEPLSRVLRLRTR*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSALLSLCFVLPLAAPGHGTQGWEPCTDLRPLDILAEVVPSDGATSGIRIVQVHGARGLQLSVAAPRTMSFPASRIFSQC
DLFPEEFSIVVTLRVPNLPPKRNEYLLTVVAEESDLLLLGLRLSPAQLHFLFLREDTAGAWQTRVSFRSPALVDGRWHTL
VLAVSAGVFSLTTDCGLPVDIMADVPFPATLSVKGARFFVGSRRRAKGLFMGLVRQLVLLPGSDATPRLCPSRNAPLAVL
SIPWVLQALTGKPEDNEVLKYPYETNIRVTLGPQPPCTEVEDAQFWFDASRKGLYLCVGNEWVSVLAAKERLDYVEEHQN
LSTNSETLGIEVFRIPQVGLFVATANRKATSAVYKWTEEKFVSYQNIPTHQAQAWRHFTIGKKIFLAVANFEPDEKGQEF
SVIYKWSHRKLKFTPYQSIATHSARDWEAFEVDGEHFLAVANHREGDNHNIDSVIYKWNPATRLFEANQTIATSGAYDWE
FFSVGPYSFLVVANTFNGTSTKVHSHLYIRLLGSFQLFQSFPTFGAADWEVFQIGERIFLAVANSHSYDVEMQVQNDSYV
INSVIYELNVTAQAFVKFQDILTCSALDWEFFSVGEDYFLVVANSFDGRTFSVNSIIYRWQGYEGFVAVHSLPTVGCRDW
EAFSTTAGAYLIYSSAKEPLSRVLRLRTR*

Gene Symbol:LOC124905038
Accession:XR_007067905
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002244475 CLINVAR
  RCV002469460 CLINVAR
dbSNP (RS) rs372173836 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TSPEAR CLINVAR
OMIM 612920 CLINVAR