RGD:152089606 Rat Genome Database

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Variant: RGD:152089606 -  Homo sapiens

RGD ID: 152089606
RS ID: rs375066240
ClinVar ID: CV1563125
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 45,941,910
GRCh38 21 44,522,027
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001272037.2:c.1218C>T
NM_144991.3:c.1422C>T
NG_033806.1:g.194552C>T
NC_000021.9:g.44522027G>A
More... 		11/01/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TSPEAR
Accession:NM_144991
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 474
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSALLSLCFVLPLAAPGHGTQGWEPCTDLRPLDILAEVVPSDGATSGIRIVQVHGARGLQLSVAAPRTMSFPASRIFSQC
DLFPEEFSIVVTLRVPNLPPKRNEYLLTVVAEESDLLLLGLRLSPAQLHFLFLREDTAGAWQTRVSFRSPALVDGRWHTL
VLAVSAGVFSLTTDCGLPVDIMADVPFPATLSVKGARFFVGSRRRAKGLFMGLVRQLVLLPGSDATPRLCPSRNAPLAVL
SIPRVLQALTGKPEDNEVLKYPYETNIRVTLGPQPPCTEVEDAQFWFDASRKGLYLCVGNEWVSVLAAKERLDYVEEHQN
LSTNSETLGIEVFRIPQVGLFVATANRKATSAVYKWTEEKFVSYQNIPTHQAQAWRHFTIGKKIFLAVANFEPDEKGQEF
SVIYKWSHRKLKFTPYQSIATHSARDWEAFEVDGEHFLAVANHREGDNHNIDSVIYKWNPATRLFEANQTIATSGAYDWE
FFSVGPYSFLVVANTFNGTSTKVHSHLYIRLLGSFQLFQSFPTFGAADWEVFQIGERIFLAVANSHSYDVEMQVQNDSYV
INSVIYELNVTAQAFVKFQDILTCSALDWEFFSVGEDYFLVVANSFDGRTFSVNSIIYRWQGYEGFVAVHSLPTVGCRDW
EAFSTTAGAYLIYSSAKEPLSRVLRLRTR*

Gene Symbol:TSPEAR
Accession:NM_001272037
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSFPASRIFSQCDLFPEEFSIVVTLRVPNLPPKRNEYLLTVVAEESDLLLLGLRLSPAQLHFLFLREDTAGAWQTRVSFR
SPALVDGRWHTLVLAVSAGVFSLTTDCGLPVDIMADVPFPATLSVKGARFFVGSRRRAKGLFMGLVRQLVLLPGSDATPR
LCPSRNAPLAVLSIPRVLQALTGKPEDNEVLKYPYETNIRVTLGPQPPCTEVEDAQFWFDASRKGLYLCVGNEWVSVLAA
KERLDYVEEHQNLSTNSETLGIEVFRIPQVGLFVATANRKATSAVYKWTEEKFVSYQNIPTHQAQAWRHFTIGKKIFLAV
ANFEPDEKGQEFSVIYKWSHRKLKFTPYQSIATHSARDWEAFEVDGEHFLAVANHREGDNHNIDSVIYKWNPATRLFEAN
QTIATSGAYDWEFFSVGPYSFLVVANTFNGTSTKVHSHLYIRLLGSFQLFQSFPTFGAADWEVFQIGERIFLAVANSHSY
DVEMQVQNDSYVINSVIYELNVTAQAFVKFQDILTCSALDWEFFSVGEDYFLVVANSFDGRTFSVNSIIYRWQGYEGFVA
VHSLPTVGCRDWEAFSTTAGAYLIYSSAKEPLSRVLRLRTR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002113892 CLINVAR
dbSNP (RS) rs375066240 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TSPEAR CLINVAR
OMIM 612920 CLINVAR