RGD:15163521 Rat Genome Database

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Variant: RGD:15163521 -  Homo sapiens

RGD ID: 15163521
RS ID: rs74518516
ClinVar ID: CV705756
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPATC1L  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 47,581,508
GRCh38 21 46,161,594
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032261.5:c.346G>T
NM_001142854.2:c.808G>T
NC_000021.9:g.46161594C>A
NC_000021.8:g.47581508C>A
More... 		09/29/2017 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SPATC1L
Accession:NM_032261
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRPKKVCFSESSLPTGDRTRRSYYLNEIQSFAGAEKDARVVGEIAFQLDRRILAYVFPGVTRLYGFTVANIPEKIEQTS
TKSLDGSVDERKLRELTQRYLALSARLEKLGYSRDLHPAFSEFLINTYGILKQRPDLRANPLHSSPAALRKLVIDVVPPK
FLGDSLLLLNCLCELSKEDGKPLFAW*

Gene Symbol:SPATC1L
Accession:NM_001142854
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEGGELMSRLLSENADLKKQVRLLKENQMLRRLLSQSCQEGGGHDLLPPRAHAYPEAGSPGSGVPDFGRFTSVADTPSQ
LQTSSLEDLLCSHAPLSSEDDTSPGCAAPSQAPFKAFLSPPEPHSHRGTDRKLSPLLSPLQDSLVDKTLLEPREMVRPKK
VCFSESSLPTGDRTRRSYYLNEIQSFAGAEKDARVVGEIAFQLDRRILAYVFPGVTRLYGFTVANIPEKIEQTSTKSLDG
SVDERKLRELTQRYLALSARLEKLGYSRDLHPAFSEFLINTYGILKQRPDLRANPLHSSPAALRKLVIDVVPPKFLGDSL
LLLNCLCELSKEDGKPLFAW*

Gene Symbol:SPATC1L
Accession:XM_005261188
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEGGELMSRLLSENADLKKQVRLLKENQMLRRLLSQSCQEGGGHDLLPPRAHAYPEAGSPGSGVPDFGRFTSVADTPSQ
LQTSSLEDLLCSHAPLSSEDDTSPGCAAPSQAPFKAFLSPPEPHSHRGTDRKLSPLLSPLQDSLVDKTLLEPREMVRPKK
VCFSESSLPTGDRTRRSYYLNEIQSFAGAEKDARVVGEIAFQLDRRILAYVFPGVTRLYGFTVANIPEKIEQTSTKSLDG
SVDERKLRELTQRYLALSARLEKLGYSRDLHPAFSEFLINTYGILKQRPDLRANPLHSSPAALRKLVIDVVPPKFLGDSL
LLLNCLCELSKEDGKPLFAW*

Gene Symbol:SPATC1L
Accession:XM_011529756
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRGCQDRRTLPLPPSQADRPCSTGVLTGGDPSQLRPPGPGSSVLAGADAGADSRVTGDQSPPPRLKEIQSFAGAEKDAR
VVGEIAFQLDRRILAYVFPGVTRLYGFTVANIPEKIEQTSTKSLDGSVDERKLRELTQRYLALSARLEKLGYSRDLHPAF
SEFLINTYGILKQRPDLRANPLHSSPAALRKLVIDVVPPKFLGDSLLLLNCLCELSKEDGKPLFAW*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000948106 CLINVAR
dbSNP (RS) rs74518516 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SPATC1L CLINVAR
OMIM 612412 CLINVAR